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Tables of Contents for Syndromes of the Head and Neck
Chapter/Section Title
Page #
Page Count
Deformations and Disruptions
1
13
Craniofacial Deformations
1
3
Nasal Deformation
1
1
Auricular Deformation
1
1
Mandibular Deformation
1
1
Torticollis
2
1
Torticollis-Caused Plagiocephaly
2
1
Deformation-Induced Craniosynostosis and Plagiocephaly
2
1
Abnormal Fetal Presentation
3
1
Potter Sequence (Oligohydramnios Sequence)
4
6
Prenatal and Perinatal Factors
5
1
Renal Pathology
5
1
Craniofacial Features
6
1
Skin
6
1
Skeletal and Limb Anomalies
6
1
Genital Anomalies
6
1
Lungs
6
1
Gastrointestinal System
6
1
Cardiovascular Anomalies
6
2
Other Findings
8
1
Diagnosis, Differential Diagnosis, and Laboratory Aids
8
2
Amnion Rupture Sequence
10
3
Limb Defects
12
1
Craniofacial Anomalies
12
1
Thoracic, Abdominal, and Other Defects
12
1
Differential Diagnosis
12
1
Laboratory Aids
12
1
Fetal Brain Disruption Sequence
13
1
Differential Diagnosis
13
1
Teratogenic Agents
14
21
Alcohol Embryopathy
14
3
Angiotension-Converting Enzyme (ACE) Inhibitor Embryopathy
17
1
Chorionic Villus Sampling Embryopathy
17
1
Cocaine Embryopathy
17
1
Cyclophosphamide (Cytoxan) Embryopathy
18
1
Cytomegalovirus and Toxoplasmosis Embryopathies
18
1
Diabetic Embryopathy
18
1
Diethylstilbestrol Embryopathy
19
1
Fluconazole Embryopathy
20
1
Folate Antagonist (Aminopterin, Methotrexate) Embryopathy
20
1
Clinical Findings
20
1
Differential Diagnosis
20
1
Hydantoin Embryopathy
21
1
Hyperthermic Embryopathy
22
1
Maternal Phenylketonuria Embryopathy
23
1
Misoprostol Embryopathy
23
1
Primidone Embryopathy
24
1
Radiation Embryopathy
24
1
Retinoid Embryopathy
24
1
Clinical Findings
24
1
Rubella Embryopathy
25
1
Tetracycline Embryopathy
26
1
Thalidomide Embryopathy
27
1
Clinical Findings
27
1
Toluene Embryopathy
28
1
Clinical Findings
28
1
Trimethadione Embryopathy
29
1
Valproate Embryopathy
29
2
Varicella Embryopathy
31
1
Warfarin and Vitamin K Deficiency Embryopathy
31
3
Clinical Findings
31
1
Differential Diagnosis
32
2
Other Teratogenic Agents
34
1
Chromosomal Syndromes: Common and/or Well-Know Syndromes
35
41
Trisomy 21 Syndrome (Down Syndrome)
35
7
Prevalence
35
1
Cytogenetics and Recurrence Risks
35
1
Screening
35
1
Mortality
35
1
Common Clinical Diagnostic Features
36
1
Growth and Skeletal Abnormalities
36
1
Central Nervous System and Performance
36
2
Craniofacial Manifestations
38
1
Cardiovascular System
39
1
Gastrointestinal System
39
1
Skin
39
1
Dermatoglyphics
39
1
Other Anomalies
39
1
Hematologic System
39
1
Tumors
39
1
Immune System
39
1
Differential Diagnosis
39
1
Laboratory Aids
39
3
Trisomy 13 (Patau) Syndrome
42
3
Growth
43
1
Central Nervous System
43
1
Craniofacial Features
43
1
Neck
43
1
Cardiovascular System
43
1
Genitalia
43
1
Limb Anomalies
43
1
Other Findings
43
1
Hematologic Findings
43
1
Neoplasia
43
1
Anatomic Features
43
1
Differential Diagnosis
44
1
Laboratory Aids
44
1
Trisomy 18 (Edwards) Syndrome
45
3
Growth
45
1
Central Nervous System
45
1
Craniofacial Features
46
1
Limbs
46
1
Cardiovascular System
46
1
Urogenital System
47
1
Other Anomalies
47
1
Anatomical Studies
47
1
Neoplasia
47
1
Differential Diagnosis
47
1
Laboratory Aids
47
1
del(4p) Syndrome (Wolf-Hirschhorn Syndrome)
48
3
del(5p) Syndrome (cri-du-chat Syndrome)
51
1
Trisomy 8 (Warkany) Syndrome
51
2
dup(9p) Syndrome
53
1
del(11)(p13) Syndrome (Aniridia-Wilms Tumor Syndrome WAGR)
53
1
del(13q) Syndrome
54
1
del(18p) Syndrome
55
1
del(18q) (De Grouchy) Syndrome
56
1
Turner Syndrome
57
5
Cytogenetics
57
1
Candidate Genes
57
1
Growth
57
1
Central Nervous System
58
1
Head and Neck Aabnormalities
59
1
Chest
59
1
Genitalia
59
1
Cardiovascular Abnormalities
60
1
Renal Anomalies
60
1
Skeletal Abnormalities
60
1
Dermatologic Features
60
1
Neoplasia
60
1
Autoimmune Disease
60
1
Differential Diagnosis
60
1
Laboratory Aids
61
1
Klinefelter Syndrome and Its Variants
62
4
Growth
62
1
Central Nervous System and Performance
62
1
Genitalia
62
1
Secondary Sexual Characteristics
62
1
Hormones
62
1
Dermatologic Findings
62
1
Craniofacial Features
62
1
Congenital Malformations
62
1
Other Findings
62
1
Neoplasia
63
1
48, XXYY
63
1
48, XXXY
63
1
49, XXXXY
63
1
46, XX Males
64
1
Differential Diagnosis
64
1
Laboratory Aids
65
1
47, XYY Males and Other Poly-Y Conditions
66
1
Growth
66
1
Central Nervous System and Performance
66
1
Gonadal Status and Fertility
66
1
Congenital Malformations
66
1
Dermatologic Findings
66
1
Dentition
66
1
Differential Diagnosis
66
1
Laboratory Findings
66
1
47, XXX, 48, XXXX and 49, XXXXX Syndromes
67
1
47, XXX
67
1
48, XXXX
67
1
49, XXXXX
67
1
Triploidy Syndrome
68
3
Fragile X Syndrome (Martin-Bell Syndrome, Macro-Orchidism-Marker X Syndrome)
71
5
Facies
71
2
Central Nervous System
73
1
Connective Tissues
73
1
Genitourinary
73
1
Oral Findings
73
1
Differential Diagnosis
73
1
Laboratory Tests
73
3
Chromosomal Syndromes: Unusual Variants
76
43
del(1p) Syndrome
76
1
dup(1p) Syndrome
76
1
del(1q) Syndrome
76
1
Proximal Interstitial Deletion
76
1
Intermediate Interstitial Deletions
77
1
Distal Deletion
77
1
dup(1q) Syndrome
77
1
del(2p) Syndrome
78
1
dup(2p) Syndrome
78
1
del(2q) Syndrome
79
1
dup(2q) Syndrome
80
1
Chromosome 2 Pericentric Inversion of 2p 12 --- q14
80
1
del(3p) Syndrome
80
1
dup(3p) Syndrome
81
1
del(3q) Syndrome
82
1
dup(3q) Syndrome
82
1
dup(4p) Syndrome
83
1
del(4q) Syndrome
83
1
dup(4q) Syndrome
84
1
dup(5p) Syndrome
85
1
del(5q) Syndrome
86
1
dup(5q) Syndrome
87
1
del(6p) Syndrome
87
1
dup(6p) Syndrome
87
1
del(6q) Syndrome
88
1
del(6)(q11-q16)
88
1
del(6)(q15-q25)
88
1
del(6)(q25-qter)
88
1
dup(6q) Syndrome
88
1
del(7p) Syndrome
89
1
dup(7p) Syndrome
89
1
del(7q) Syndrome
90
1
dup(7q) Syndrome
91
1
r(7) Syndrome
91
1
del(8p) Syndrome
92
1
dup(8p) Syndrome
92
1
Mosaic Tetraploidy (8p) Syndrome
92
1
dup(8q) Syndrome
92
1
del(9p) Syndrome
93
1
Tetrasomy (9p) Syndrome
94
1
del(9q) Syndrome
94
1
dup(9q) Syndrome
95
1
Trisomy 9 Syndrome
95
1
del(10p) Syndrome
96
1
dup(10p) Syndrome
97
1
del(10q) Syndrome
97
1
dup(10q) Syndrome
97
1
Unbalanced 11/12 Translocation
98
1
del(11p) Syndrome (Potocki-Shaffer Syndrome)
99
1
del(11q) Syndrome (Jacobsen Syndrome)
99
1
dup(11p) Syndrome
100
1
Pallister-Killian Syndrome (Mosaic Tetrasomy 12p Isochromosome 12p Syndrome)
100
2
del(14q) Syndrome
102
1
dup(14q) Syndrome
102
1
Trisomy 14 Mosaicism Syndrome
103
1
Uniparental Disomy 14
103
1
Paternal Disomy 14
103
1
Maternal Disomy 14
103
1
del(15q) Syndrome
103
1
dup(15q) Syndrome
104
1
Trisomy and Terasomy 15 Mosaicism Syndromes
104
1
inv dup(15) Syndrome
105
1
dup(16p) Syndrome
105
1
del(16q) Syndrome
106
1
dup(16q) Syndrome
106
1
Trisomy 16 and Partial Trisomy 16
107
1
Smith-Magenis Syndrome [del(17p11.2)]
107
1
dup(17p) Syndrome
108
1
del(17q) Syndrome
108
1
dup(17q) Syndrome
108
1
dup(19q) Syndrome and Mosatic Trisomy 19
109
1
del(20p) Syndrome
109
1
dup(20p) Syndrome
110
1
dup(20q) Syndrome
110
1
Monosomy 21 and del(21q) Syndrome
110
1
Tetrasomy 22pter q11 or Cat Eye Syndrome
111
1
del(22q) Syndrome
112
1
Trisomy 22 (dup(22q) Syndrome
113
1
Tetraploidy and Tetraploid/Diploid Mosaicism Syndrome
114
1
Nijmegen Breakage Syndrome (Seemanova Syndrome)
115
1
Immune Deficiency with Centromeric Instability of Chromosomes 1, 9, and 16 (ICF Syndrome)
116
3
Facial Changes
116
1
Growth and Mental Retardation
116
1
Immune Deficienty
116
1
Other Findings
117
1
Laboratory Findings
117
2
Metabolic Disorders
119
59
Mucopolysaccharidoses
119
20
Mucopolysaccharidosis I-H (Hurler Syndrome)
120
1
Facies
121
1
Musculoskeletal System
121
1
Other Findings
121
1
Oral Manifestations
121
1
Diagnosis
122
1
Laboratory Aids
122
2
Mucopolysaccharidosis I-S (Scheie Syndrome)
124
1
Facies
124
1
Skeletal System
124
1
Other Findings
124
1
Oral Manifestations
124
1
Laboratory Aids
124
1
Mucopolysaccharidosis I-H/S (Hurler-Scheie Syndrome)
125
1
Oral Findings
125
1
Laboratory Aids
125
2
Mucopolysaccharidosis II (Hunter Syndrome)
127
1
Facies
127
1
Skeletal System
127
1
Other Findings
127
1
Eye Findings
127
1
Central Nervous System
127
1
Skin Findings
128
1
Oral Findings
128
1
Complications
128
1
Laboratory Findings
128
1
Mucopolysaccharidosis III (Sanfilippo A, B, C, and D Syndrome)
129
1
Facies
130
1
Skeletal System
130
1
Other Findings
130
1
Oral Manifestations
130
1
Laboratory Findings
130
1
Mucopolysaccharidosis IVA and IVB (Morquio Syndrome)
131
1
MPS IVA
132
1
MPS IVB
132
1
Differential Diagnosis
132
2
Laboratory Findings
134
1
Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)
135
1
Facies
136
1
Musculoskeletal System
136
1
Other Findings
136
1
Oral Manifestations
136
1
Differential Diagnosis
136
1
Laboratory Findings
136
1
Mucopolysaccharidosis VII (sly Syndrome, β-Glucuronidase Deficiency)
137
1
Facies
137
1
Skeletal System
138
1
Other Findings
138
1
Oral Manifestations
138
1
Differential Diagnosis
138
1
Laboratory Findings
138
1
Mucopolysaccharidosis IX
139
1
Oligosaccharidoses and Related Disorders
139
15
Gmi Gangliosidosis, Type 1
139
1
Facies
139
1
Skeletal System
139
1
Central Nervous System
139
1
Other Findings
139
1
Oral Manifestations
139
1
Differential Diagnosis
139
1
Laboratory Findings
140
1
Fucosidosis
140
1
Facies
140
1
Skeletal System
140
1
Central Nervous System
140
1
Other Findings
141
1
Oral Findings
141
1
Laboratory Findings
141
1
Aspartylglucosaminuria
141
1
Facies
141
1
Skeletal Manifestations
142
1
Nervous System
142
1
Skin
142
1
Other Findings
142
1
Oral Manifestations
142
1
Laboratory Findings
142
1
α-Mannosidosis
143
1
Facies
143
1
Central Nervous System
143
1
Eyes and Ears
143
1
Musculoskeletal System
143
1
Other Findings
144
1
Oral Findings
144
1
Laboratory Aids
144
1
β-Mannosidosis
144
1
Facies
144
1
Central Nervous System
144
1
Eyes and Ear
144
1
Musculoskeletal System
144
1
Other Findings
144
1
Laboratory Aids
144
1
Sialidosis (Neuraminidase/Sialidase Deficiency)
145
1
Differential Diagnosis
145
1
Laboratory Findings
145
2
Galactosialidosis
147
1
Early-Infantile Type
147
1
Late-Infantile Type
147
1
Juvenile/Adult Type
148
1
Laboratory Findings
148
1
I-Cell Disease (Mucolipidosis II)
148
1
Facies
148
1
Musculoskeletal System
149
1
Other Findings
149
1
Oral Manifestations
149
1
Laboratory Findings
150
1
Mucolipidosis III (Pseudo-Hurler Polydystrophy)
150
1
Facies
151
1
Eyes
151
1
Musculoskeletal System
151
1
Skin Findings
151
1
Laboratory Findings
151
1
Sialic Acid Storage Diseases (Includes Salla Disease)
152
1
Facies
152
1
Eye Findings
152
1
Organomegaly
152
1
Neurologic Findings
152
1
Differential Diagnosis
152
1
Laboratory Findings
152
1
Mucolipidosis IV (Berman Syndrome)
153
1
Facies
153
1
Eyes
153
1
Organomegaly
153
1
Skeletal Anomalies
153
1
Neurologic
153
1
Differential Diagnosis
153
1
Laboratory Findings
153
1
Mucosulfatidosis (Austin Syndrome, Multiple Sulfatase Deficiency)
153
1
Laboratory Findings
154
1
Other Metabolic Disorders with Dysmorphic Features
154
10
Fabry Syndrome (Angiokeratoma Corporis Diffusum Universale)
154
1
Skin
154
1
Eyes
154
1
Cardiac, Cerebral, and Renal Vascular Manifestations
155
1
Acroparesthesias
155
1
Other Clinical Findings
155
1
Oral Manifestations
155
1
Differential Diagnosis
155
1
Laboratory Aids
156
1
Homocystinuria (Cystathionine Synthase Deficiency)
157
1
Pathophysiology
158
1
Clinical Manifestations
158
1
Eyes
158
1
Musculoskeletal System
158
1
Thromboembolic Events
159
1
Central Nervous System
159
1
Other Findings
159
1
Oral Findings
159
1
Diagnosis and Laboratory Aids
159
1
Differential Diagnosis
159
2
Hypophosphatasia
161
1
Genetics and Biochemistry
162
1
Clinical Features
162
1
Infantile
163
1
Childhood
163
1
Adult
163
1
Oral Manifestations
163
1
Pathology
163
1
Diagnosis and Laboratory Aids
163
1
Pseudohypoparathyroidism (Albright Hereditary Osteodystrophy, Pseudopseudohypoparathyroidism)
164
4
Genetics
165
1
Craniofacial Findings
165
1
Musculoskeletal Changes
165
1
Calcifications
166
1
Endocrine Findings
166
1
Differential Diagnosis
166
1
Laboratory Aids
166
2
Zellweger Syndrome (Cerebrohepatorenal Syndrome)
168
6
Craniofacial Features
169
1
Central Nervous System
170
1
Liver
171
1
Kidney
171
1
Pulmonary and Cardiovascular Findings
171
1
Skeletal Findings
171
1
Other Findings
171
1
Differential Diagnosis
171
1
Laboratory Aids
171
3
Carbohydrate-Deficient Glycoprotein Syndromes (Congenital Disorders of Glycosylation)
174
2
Laboratory Findings
174
1
Differential Diagnosis
175
1
Molybdenum Cofactor Deficiency
176
2
Laboratory Findings
177
1
Syndromes Affecting Bone: The Osteogenesis Imperfectas
178
14
The Osteogenesis Imperfectas
178
14
Molecular Pathology
178
1
Type I
179
1
General Features
179
1
Facies
179
1
Ophthalmologic Abnormalities
179
1
Otolaryngologic Abnormalities
179
1
Neurologic Manifestations
179
1
Cardiovascular Involvement
180
1
Joint Abnormalities
180
1
Skeletal Manifestations
180
1
Oral Manifestations
180
1
Other Abnormalities
180
1
Type II
180
1
General Features
180
1
Facies
181
1
Ophthalmologic Findings
181
1
Cardiovascular System
182
1
Skeletal Manifestations
182
1
Oral Abnormalities
182
1
Type III
182
1
General Features
182
1
Ophthalmologic Abnormalities
183
1
Otolaryngologic Abnormalities
183
1
Neurologic Abnormalities
183
1
Cardiovascular System
183
1
Joint Abnormalities
183
1
Skeletal Findings
183
1
Oral Abnormalities
184
Type IV
183
1
General Features
183
1
Facies
183
1
Ophthalmologic Abnormalities
184
1
Otolaryngologic Findings
184
1
Neurologic Manifestations
184
1
Cardiovascular System
184
1
Joint Abnormalities
184
1
Skeletal Abnormalities
184
1
Oral Findings
184
1
Other Features
184
1
Differential Diagnosis
184
4
Laboratory Aids
188
4
Syndromes Affecting Bone: Chondrodysplasias and Chondrodystrophies
192
89
Achondrogenesis
192
5
Facies
194
1
Skeletal Alterations
194
1
Type 1A (Houston-Harris)
195
1
Type 1B (Fraccaro)
195
1
Type 2 (Langer-Saldino)
195
1
Mild Type 2 (Hypochondrogenesis)
195
1
Pathologic Findings
195
1
Other Findings
195
1
Oral Manifestations
195
1
Differential Diagnosis
195
1
Laboratory Aids
196
1
Achondroplasia
197
5
Molecular and Histological Findings
198
1
Growth and Development
198
1
Facies and Skull
198
1
Central Nervous System
198
1
Skeletal System
199
1
Otolaryngologic Findings
199
1
Differential Diagnosis
199
1
Laboratory Aids
199
3
Hypochondroplasia
202
1
Differential Diagnosis
202
1
Acrodysostosis
203
2
Acromesomelic Dysplasia
205
2
Acromicric Dysplasia
207
1
Atelosteogenesis Type I
208
1
Atelosteogenesis Type II (De la Chapelle Syndrome)
209
1
Atelosteogenesis Type III
210
1
Lethal Skeletal Dysplasia with Gracile Bones (Osteocraniostenosis)
211
1
Boomerang Dysplasia
211
2
Burton Syndrome
213
1
Campomelic Dysplasia
213
4
Differential Diagnosis
215
1
Laboratory Findings
215
2
Cartilage-Hair Hypoplasia (McKusick-type Metaphyseal Dysplasia)
217
3
Growth
217
1
Facies and Hair
217
1
Skeletal Alterations
217
1
Infections
217
1
Malignancy
218
1
Other Findings
218
1
Differential Diagnosis
218
1
Laboratory Aids
219
1
Metaphyseal Dysplasia, Type Jansen
220
2
Chondrodysplasia Punctata (General)
222
7
Conradi-Hunermann Disease: X- Linked Dominant Type
222
1
Facies
222
1
Eyes
223
1
Skin
223
1
Musculoskeletal Alterations
223
1
Other Manifestations
223
1
Laboratory Aids
223
1
Chondrodysplasia Punctata, Rhizomelic Type
224
1
Facies
224
1
Eyes
224
1
Skin
224
1
Musculoskeletal Alterations
224
1
Oral Manifestations
225
1
Other
225
1
Laboratory Aids
225
1
Chondrodysplasia Punctata, X-Linked Recessive Type
226
1
Facies
226
1
Eyes
226
1
Skin
226
1
Musculoskeletal Alterations
226
1
Other
227
1
Laboratory Aids
227
1
Chondrodysplasia Punctata, Sheffield Type (and Brachytelephalangic Type)
227
1
Chondrodysplasia Punctata, Tibia-Metacarpal Type
228
1
Other Disorders with Stippled Epiphyses
228
1
Diastrophic Dysplasia
229
3
Facies
229
1
Musculoskeletal Alterations
229
1
Oral Manifestations
230
1
Differential Diagnosis
230
1
Laboratory Aids
230
2
Pseudodiastrophic Dysplasia
232
1
Dyggve-Melchior-Clausen Syndrome
233
2
Facies
233
2
Central Nervous System
235
1
Skeletal Changes
235
1
Radiographic Changes
235
1
Differential Diagnosis
235
1
Laboratory Aids
235
1
Dyssegmental Dysplasia, Type Silverman-Handmaker
235
2
Dyssegmental Dysplasia, Type Rolland-Desbuquois
237
2
Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
239
3
Facies
239
1
Skeletal Anomalies
239
1
Heart
240
1
Hair and Nails
240
1
Eyes
240
1
Genitourinary System
240
1
Central Nervous System
241
1
Oral Manifestations
241
1
Differential Diagnosis
241
1
Laboratory Aids
241
1
Fibrochondrogenesis
242
2
Geleophysic Dysplasia
244
1
Kniest Dysplasia (Metatropic Dysplasia, Type II)
245
3
Facies
246
1
Musculoskeletal Alterations
246
2
Kyphomelic Dysplasia
248
1
Lethal Short-Limbed Dysplasias
249
10
Lethal Short-Limbed Dysplasia with Platyspondyly
249
1
Torrance Type
249
1
San Diego Type
249
1
Calgary Type
250
1
Luton Type
250
1
Yamagata Type
250
1
Perth Type
250
1
Shiraz Type
250
1
Short-Rib Syndromes
250
1
Type I (Saldino-Noonan Type)
250
1
Type II (Majewski Type)
250
2
Type III (Verma-Naumoff Type)
252
1
Type IV (Beemer-Langer Type)
253
1
Lethal Short-Limbed Dysplasias with Decreased Bone Density
253
1
Epiphyseal Stippling---Osteoclast Hyperplasia
253
1
Piepkorn Dysplasia
253
1
Lethal Short-Limbed Dysplasias with Increased Bone Density
253
1
Blomstrand Dysplasia
253
2
Raine Syndrome
255
1
Koide Dysplasia
255
1
Lethal Short-Limbed Dysplasia with Fragmented Bones
255
1
Astley-Kendall Dysplasia
255
1
Dappled Diaphyseal Dysplasia
256
1
Greenberg Dysplasia
256
1
Lethal Short-Limbed Dysplasia: Miscellaneous Type
257
1
Holmgren-Connor Dysplasia
257
2
Megepiphyseal Dysplasia
259
1
Metatropic Dysplasia
259
3
Skeleton
260
1
Other Findings
261
1
Laboratory Aids
261
1
Nance-Sweeney Chondrodysplasia
262
1
Opsismodysplasia
263
1
Osteoglophonic Dysplasia
264
1
Craniofacial Findings
264
1
Musculoskeletal Findings
264
1
Other Findings
264
1
Differential Diagnosis
264
1
Schneckenbecken Dysplasia
265
1
Spondylo(meta)(epiphyseal) Dysplasias
266
7
Spondyloepiphyseal Dysplasia Congenita
266
1
Clinical Findings
266
1
Radiographic Findings
267
1
Differential diagnosis
267
4
Spondyloepimetaphyseal Dysplasia with Joint Laxity
271
2
Thanatophoric Dysplasia
273
4
Epidemiology
273
1
Histology and Pathogenesis
273
1
Nosology and Genetics
273
1
Natural History
273
1
Craniofacial Features
273
1
Neuropathology
274
1
Other Abnormalities
274
1
Prenatal diagnosis
274
1
Differential Diagnosis
274
3
Unique Skeletal Dysplasia, Developmental Delay, and Acanthosis Nigricans (SADDAN)
277
1
Skin
277
1
Skeletal System
277
1
Central Nervous System
277
1
Spondyloepiphyseal Dysplasia, Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation
278
1
Cerebro-Ocular-Dental-Auricular-Skeletal (CODAS) Syndrome
278
1
Multicentric Osteolysis, Torg-Like
279
1
``Baby Rattle'' Pelvis Dysplasia
280
1
Syndromes Affecting Bone: Craniotubular Bone disorders
281
24
General Considerations
281
1
Craniometaphyseal Dysplasia
281
2
Craniodiaphyseal Dysplasia
283
2
Craniometadiaphyseal Dysplasia, Wormian Bone Type
285
1
Osteopetrosis
285
5
Severe Autosomal Recessive Osteopetrosis (Albers-Schonberg Disease)
285
1
Clinical findings
286
1
Musculoskeletal Findings
286
1
Hematopoietic Findings
287
1
Oral Manifestations
287
1
Other Findings
287
1
Laboratory Findings
287
1
Mild Autosomal Recessive Osteopetrosis
287
1
Autosomal Recessive Osteopetrosis with Renal Tubular Acidosis
287
1
Benign Autosomal Dominant Osteopetrosis
288
1
Clinical Findings
288
1
Radiologic Findings
289
1
Diagnosis
289
1
Oculodentoosseous Dysplasia (Oculodentodigital Syndrome)
290
2
Craniofacial Findings
290
1
Ocular Findings
290
1
Musculoskeletal Findings
291
1
Oral Findings
291
1
Other Findings
291
1
Differential Diagnosis
291
1
Frontometaphyseal Dysplasia
292
2
Craniofacial Features
292
1
Musculoskeletal System
292
1
Radiographic Findings
292
2
Other Findings
294
1
Differential Diagnosis
294
1
Dysosteosclerosis
294
2
Craniofacial Findings
294
1
Musculoskeletal Findings
294
2
Van Buchem Disease and Pseudo-Van Buchem Disease
296
1
Craniofacial Findings
296
1
Musculoskeletal Findings
296
1
Sclerosteosis
296
3
Autosomal Dominant Osteosclerosis (Endosteal Hyperostosis, Worth Type)
299
1
Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease)
299
2
Osteopathia Striata with Cranial Sclerosis
301
2
Hyperphosphatasemia
303
1
Diaphyseal Medullary Stenosis and Malignant Fibrous Histiocytoma (Arnold-Hardcastle Syndrome)
304
1
Syndromes Affecting Bone: Other Skeletal Dysplasias
305
61
Autosomal Recessive Mesomelic Dwarfism
305
1
Calvarial Doughnut Lesions, Osteoporosis, and Dentigerous Cysts
305
1
Campomelia, Cervical Lymphocele, Polysplenia, Multicystic Dysplastic Kidneys, and Cleft Lip or Palate (Cumming Syndrome)
305
1
Cleidocranial Dysplasia
306
4
Facies and General Appearance
306
1
Cranium
306
1
Clavicle
307
1
Other Skeletal Deformities
307
1
Other Findings
307
1
Oral Manifestations
307
1
Differential Diagnosis
307
2
Laboratory Aids
309
1
Dysplastic Clavicle, Sparse Hair, and Digital Anomalies (Yunis-Varon Syndrome)
310
2
Fibrodysplasia Ossificans Progressiva
312
3
Genetics
312
1
Pathogenesis
312
1
Musculoskeletal Findings
313
1
Other Findings
314
1
Differential Diagonosis
314
1
Laboratory Aids
314
1
Hajdu-Cheney Syndrome (Acroosteolysis)
315
3
Facies
315
1
Skin
316
1
Central Nervous System
316
1
Musculoskeletal Alternations
317
1
Genitourinary Findings
317
1
Other Findings
317
1
Oral Manifestations
317
1
Differential Diagnosis
317
1
Laboratory Aids
317
1
Infantile Cortical Hyperostosis (Caffey-Silverman Syndrome)
318
3
Facies
319
1
Soft Tissues
319
1
Fever and Irritability
319
1
Skeletal System
319
1
Oral Manifestations
319
1
Pathology
319
1
Differential Diagnosis
320
1
Laboratory Aids
320
1
Kenny-Caffey Syndrome (Tubular Stenosis, Sanjad-Sakati Syndrome)
321
2
Lenz-Majewski Syndrome
323
2
Facies
323
1
Musculoskeletal
323
1
Genitourinary
323
1
Central Nervous System
323
1
Skin
323
1
Oral Manifestations
323
1
Differential diagnosis
323
1
Laboratory Aids
323
2
Mandibuloacral Dysplasia
325
2
Facies
325
1
Musculoskeletal
325
1
Skin
325
1
Oral Manifestations
325
1
Other Findings
326
1
Differential Diagnosis
326
1
Laboratory Findings
326
1
Marfan Syndrome
327
7
Criteria
327
1
Craniofacial Features
328
1
Musculoskeletal System
329
1
Ocular Changes
329
1
Cardiovascular Abnormalities
329
1
Pulmonary Pathology
330
1
Skin and Integument
331
1
Miscellaneous Findings
331
1
Differential Diagnosis
331
1
Laboratory Aids
331
3
McCune-Albright Syndrome
334
5
Skeletal Manifestations
335
1
Cutaneous Manifestations
336
1
Endocrine Manifestations
337
1
Central Nervous System
337
1
Neoplasms
337
1
Other Findings
337
1
Differential Diagnosis
337
1
Laboratory Aids
337
2
Melnick-Needles Syndrome (Osteodysplasty)
339
4
Facies
340
1
Skeletal Alterations
340
2
Other Findings
342
1
Oral Manifestations
342
1
Differential Diagnosis
342
1
Laboratory Findings
342
1
Osteochondrodysplasia with Hypertrichosis (Cantu Syndrome)
343
1
Pachydermoperiostosis (touraine-Solente-gole Sundrome, Primary (Idiopathic) Hypertrophic Osteoarthropathy)
343
4
Facies, Skin, and Skin Appendages
345
1
Skeletal Alternations
346
1
Differential Diagnosis
346
1
Pycnodysostosis
347
3
Facies
347
1
Skeletal Alternations
347
2
Eyes
349
1
Oral Manifestations
349
1
Differential Diagnosis
349
1
Laboratory Aids
349
1
Osteosclerosis Syndrome, Stanescu Type
350
1
Stickler Syndrome (Hereditary Arthroophthalmopathy)
351
3
Facies
351
1
Eye
351
1
Ears
351
2
Musculoskeletal Findings
353
1
Other Findings
353
1
Differential Diagnosis
353
1
Short Stature, Low Nasal Bridge, Cleft Palate, and Sensorineural Hearing Loss (OSMED, Megepiphyseal Dysplasia, Non-Ocular Stickler Syndrome)
354
1
Weissenbacher-Zweymuller Phenotype
354
3
SPONASTRIME Dysplasia
357
1
Winchester Syndrome
357
2
Mesomelic Short Stature, Acral Synostosis, Unusual Facies, Umbilical Anomalies, and Agenesis of Soft Palate (Verloes-David Syndrome)
359
1
Metaphyseal Acroscyphodysplasia
360
1
Micromelic Dysplasia with Dislocated Radius
360
1
Oto-Facio-Osseous-Gonadal Syndrome
361
1
Pointer Syndrome
361
1
Schimke Immuno-Osseous Dysplasia
361
3
Spondylocarpotarsal Synostosis Syndrome
364
1
Unusual Facies, Rhizomelic Bone Dysplasia with Club-Like Femora (Omodysplasia)
365
1
Proportionate Short Stature Syndromes
366
33
Aarskog Syndrome (Facial-Digital-Genital Syndrome)
366
2
Facies
366
1
Musculoskeletal System
366
1
Genital Anomalies
366
1
Other Findings
366
1
Oral Manifestations
367
1
Differential Diagnosis
367
1
Bloom Syndrome
368
4
Genetics
368
1
Cytogenetics
369
1
Growth
369
1
Performance
369
1
Skin
369
1
Immunologic Features
370
1
Endocrine Findings
370
1
Neoplasia
370
1
Other Findings
370
1
Differential Diagnosis
370
1
Laboratory Aids
371
1
De Lange Syndrome (Brachmann-de Lange Syndrome)
372
5
Clinical Variability and Diagnosis
372
1
Growth
372
2
Central Nervous System
374
1
Craniofacial Features
374
1
Limbs
375
1
Skin
375
1
Genitourinary System
375
1
Gastrointestinal Abnormalities
375
1
Cardiovascular System
375
1
Other Findings
375
1
Differential Diagnosis
375
1
Laboratory Aids
375
2
Dubowitz Syndrome
377
2
Growth
377
1
Facies
377
1
Skin
378
1
Central Nervous System
378
1
Other Findings
378
1
Oral Manifestations
378
1
Differential Diagnosis
378
1
Hallermann-Streiff Syndrome
379
3
Natural History
379
1
Craniofacial Features
379
2
Central Nervous System
381
1
Other Findings
381
1
Differential Diagnosis
381
1
Rubinstein-Taybi Syndrome
382
5
Genetics
382
1
Systemic Manifestations
383
1
Growth
383
1
Performance and Central Nervous System
383
2
Craniofacial Features
385
1
Hands and Feet
385
1
Skeletal System
385
1
Genitourinary System
385
1
Other Findings
385
1
Differential Diagnosis
385
2
Seckel Syndrome and Other Microcephalic Primordial Dwarfisms
387
4
Seckel Syndrome
387
1
Growth and Development
388
1
Craniofacial Features
388
1
Other Findings
388
1
Osteodysplastic Primordial Dwarfism
388
1
Differential Diagnosis
389
2
Silver-Russell Syndrome
391
3
Growth
393
1
Facies
393
1
Musculoskeletal System
393
1
Urogenital Anomalies
393
1
Other Findings
393
1
Oral Manifestations
393
1
Differential Diagnosis
393
1
Laboratory Findings
393
1
3-M Syndrome
394
2
Mulibrey Nanism
396
3
Facies
396
1
Eyes
397
1
Heart
397
1
Liver
397
1
Central Nervous System
397
1
Skin
397
1
Musculoskeletal System
397
1
Miscellaneous Findings
397
1
Oral Manifestations
397
1
Differential Diagnosis
397
2
Overgrowth Syndromes and Postnatal Onset Obesity Syndromes
399
29
Beckwith-Wiedemann Syndrome (EMG (Exomphalos-Macroglossia-Gigantism) Syndrome)
399
6
Etiology
399
1
Pathogenesis
399
1
Infant Mortality
399
1
Growth
399
1
Performance and Central Nervous System
399
1
Craniofacial Features
400
1
Visceromegaly
400
1
Histopathology
401
1
Cariovascular Anomalies
401
1
Other Abnormalities
402
1
Neoplasms
402
1
Prenatal Diagnosis
403
1
Differential Diagnosis
403
1
Laboratory Findings
403
2
Hemihyperplasia (Hemihypertrophy)
405
3
Clinical Manifestations
405
1
Neoplasms
406
1
Differential Diagnosis
406
1
Laboratory Aids
407
1
Sotos Syndrome
408
2
Growth and Skeletal Findings
408
1
Performance and CNS Abnormalities
408
1
Craniofacial Features
408
1
Other Findings
408
1
Neoplasms
408
1
Laboratory Findings
409
1
Differential Diagnosis
409
1
Nevo Syndrome
410
1
Bannayan-Riley-Ruvalcaba Syndrome (Bannayan-Zonana Syndrome, Ruvalcaba-Myhre Syndrome, Riley-Smith Syndrome)
410
3
Craniofacial Features
411
1
Skin
411
1
Hashimoto Thyroiditis
411
1
Gastrointestinal System
411
1
Musculoskeletal System
412
1
Neoplasms
412
1
Other Abnormalities
412
1
Differential Diagnosis
412
1
Laboratory Aids
412
1
Weaver Syndrome
413
2
Growth and Skeletal Findings
413
1
Performance and Central Nervous System
413
1
Craniofacial Features
413
1
Limbs
413
1
Neoplasms
413
1
Differential Diagnosis
413
2
Marshall-Smith Syndrome
415
2
Growth, Performance, and Natural History
415
1
Craniofacial Features
415
1
Musculoskeletal System
416
1
Other Abnormalities
416
1
Differential Diagnosis
416
1
Simpson-Golabi-Behmel Syndrome
417
2
Etiology
417
1
Clinical Findings
417
1
Growth
417
1
Central Nervous System
417
1
Craniofacial Abnormalities
417
1
Extremities
418
1
Musculoskeletal Anomalies
418
1
Skin
418
1
Embryonal Neoplasia
418
1
Other Findings
419
1
Prader-Willi Syndrome
419
5
Etiology
419
1
Familial Occurrences and Recurrence Risk
420
1
Genotype-Phenotype Correlations
420
1
Natural History
420
1
Growth
420
1
Central Nervous System and Performance
421
1
Albinoidism
421
1
Obesity
421
1
Sexual Development
421
1
Craniofacial Features
421
1
Limbs
421
1
Skeletal System
421
1
Hematologic Findings
421
1
Differential Diagnosis
421
1
Laboratory Aids
422
2
Cohen Syndrome
424
2
Growth
424
1
Central Nervous System and Performance
424
1
Facial Features
425
1
Eyes
425
1
Limbs
425
1
Cariovascular System
425
1
Laboratory Findings
425
1
Differential Diagnosis
425
1
Camera-Marugo-Cohen Syndrome
426
1
Borjeson-Forssman-Lehmann Syndrome
426
2
Hamartoneoplastic Syndromes
428
66
Acanthosis Nigricans
428
4
Skin
428
1
Oral Manifestations
428
1
Malignant Neoplasia
429
1
Insulin-Resistant Types
429
1
Obesity
429
1
Other Endocrinopathies
430
1
Congenital Syndromes
430
1
Autosomal Dominant Type
431
1
Drug-Induced Type
431
1
Miscellaneous Types
431
1
Differential Diagnosis
431
1
Laboratory Aids
431
1
Cowden Syndrome (Multiple Hamartoma and Carcinoma Syndrome, Lhermitte-Duclos Disease)
432
5
Facies
432
1
Skin
432
1
Breasts
433
1
Brain
433
1
Thyroid
434
1
Gastrointestinal Tract
434
1
Other Neoplasms
434
1
Skeletal Abnormalities
435
1
Genitourinary Abnormalities
435
1
Other Findings
435
1
Oral Manifestations
435
1
Differential Diagnosis
435
1
Laboratory Aids
435
2
Gardner Syndrome
437
7
Osteomas
438
1
Epidermoid Cysts
438
1
Gastrointestinal System
438
1
Desmoid Tumors
439
1
Other Neoplasms
439
1
Eye Findings
440
1
Skin
440
1
Oral Manifestations
440
1
Differential Diagnosis
440
1
Juvenile Polyposis of the Colon
440
1
Turcot Syndrome
440
1
Peutz-Jeghers Syndrome
440
1
Cronkhite-Canada Syndrome
440
1
Muir-Torre Syndrome
440
1
Periforllicular Fibromas and Intestinal Polyposis (Birt-Hogg-Dube Syndrome, Hornstein-Knickenberg Syndrome)
440
1
Other Multiple Intestinal Syndromes
440
1
Diagnosis
441
1
Laboratory Aids
441
3
Gorlin (Nevoid Basal Cell Carcinoma) Syndrome
444
9
Craniofacial Features
445
1
Eyes
445
1
Skin
445
3
Odontogenic Keratocysts
448
1
Musculoskeletal and Radiographic Findings
449
1
Kidney Anomalies
449
1
Hypogonadism in Males
449
1
Medulloblastoma, Other Brain Tumors, and Seizures
449
1
Cardiac Fibroma
449
1
Mesenteric Cysts
449
1
Ovarian Fibromas and Fibrosarcomas
449
1
Fetal Rhabdomyoma
450
1
Miscellaneous Other Tumors
450
1
Chromosome Instability and Cellular Radiation Sensitivity
450
1
Differential Diagnosis
450
1
Laboratory Diagnosis
450
3
Klippel-Trenaunay Syndrome, Parkes Weber Syndrome, and Sturge-Weber Syndrome
453
7
Klippel-Trenaunay Syndrome
454
1
Etiologic Considerations
454
1
Capillary Malformations
454
1
Varicosities
454
1
Lymphatic Malformations
454
1
Limb Enlargement
455
1
Secondary Cutaneous Manifestations
455
1
Other
455
1
Parkes Weber Syndrome
455
1
Sturge-Weber Syndrome
456
1
Seizures and Cognitive Disability
457
1
Vascular Tumors and Vascular Malformations
457
1
Kasabach-Merritt Phenomenon
458
1
Diagnosis
458
1
Differential Diagnosis
458
1
Laboratory Aids
459
1
Maffucci Syndrome (Enchondromatosis and Vascular Malformations)
460
2
Skeletal System
460
1
Vascular Abnormalities
460
1
Neoplasms
460
1
Oral Manifestations
460
1
Differential Diagnosis
460
1
Laboratory Aids
460
2
Multiple Endocrine Neoplasia, Type 2B (Multiple Mucosal Neuroma Syndrome, MEN Type 3)
462
6
Facies
462
1
Ophthalmologic Manifestations
462
1
Otolaryngologic Manifestations
462
1
Thyroid Gland
462
1
Adrenal Gland
463
1
Gastrointestinal Tract
463
1
Musculoskeletal Alterations
463
1
Other Findings
463
1
Oral Manifestations
463
1
Differential Diagnosis
463
1
Laboratory Aids
464
4
Multiple Odontoma-Esophageal Stenosis Syndrome
468
1
The Neurofibromatoses (NF1 Recklinghausen Type, NF2 Acoustic Type, Other Types)
469
7
Types of Neurofibromatosis
469
1
Neurofibromatosis, Type 1 (NF1)
469
1
Neurofibromatosis, Type 2 (NF2)
469
1
Neurofibromatosis, Type 3, Riccardi Type
469
1
Neurofibromatosis, Type 3, Intestinal Type
469
1
Neurofibromatosis, Type 4
469
1
Neurofibromatosis, Type 5, Segmental Neurofibromatosis
469
1
Familial Spinal Neurofibromatosis
469
1
Duodenal Carcinoid Syndrome
469
1
Etiology
469
1
Phenotypic/Molecular Correlations
470
1
Unusual Aspects of Neurofibromatosis
470
1
Neurofibromatosis, Type 1
470
1
Natural History
470
1
Growth
470
1
Neoplasia
470
1
Skin
470
1
Central Nervous System
471
1
Eyes
471
1
Skeletal System
471
1
Endocrine System
471
1
Cardiovascular System
471
1
Oral Manifestations
471
1
Other Findings
472
1
Differential Diagnosis
472
1
Laboratory Aids
473
3
Peutz-Jeghers Syndrome
476
4
Gastrointestinal System
476
1
Skin
477
1
Ovarian Cysts and Tumors and Uterine Adenocarcinoma
477
1
Testicular Tumors
478
1
Other Neoplasms
478
1
Oral Manifestations
478
1
Differential Diagnosis
478
1
Laboratory Aids
478
2
Proteus Syndrome (and Encephalocraniocutaneous Lipomatosis)
480
4
Natural History
481
1
Facial Phenotype with Mental Deficiency
481
1
Connective Tissue Nevi
481
1
Epidermal Nevi and Other Skin Lesions
481
1
Vascular Malformations
481
1
Lipomas and Dysregulation of Adipose Tissue
481
1
Unusual Tumors
481
1
Skeletal Abnormalities
482
1
Spleen and Thymus
482
1
Central Nervous System
482
1
Pulmonary Abnormalities
482
1
Renal Abnormalities
482
1
Other Abnormalities
482
1
Differential Diagnosis
482
2
Schimmelpenning Syndrome (Formerly ``Epidermal Nevus Syndrome'')
484
4
Cutaneous Manifestations
485
1
Central Nervous System
485
1
Ocular Defects
485
1
Skeletal Abnormalities
485
1
Oral Manifestations
485
1
Other Findings
485
1
Differential Diagnosis
485
3
Tuberous Sclerosis
488
6
Skin
489
1
Performance and Central Nervous System
489
1
Skeletal System
489
2
Ocular Findings
491
1
Renal Abnormalities
491
1
Cardiac Manifestations
491
1
Other Findings
491
1
Oral Manifestations
491
1
Differential Diagnosis
491
1
Laboratory Aids
491
3
Syndromes Affecting the Skin and Mucosa
494
160
Aplasia Cutis Congenita
494
4
Differential Diagnosis
495
1
Laboratory Aids
495
3
Aplasia Cutis Congenita, Ear Malformations, Facial Paresis, and Dermal Sinuses (Scalp-Ear-Nipple Syndrome, Finlay-Marks Syndrome)
498
1
Aplasia Cutis Congenita with Epibulbar Dermoids (Oculo-Ectodermal Syndrome)
498
1
Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
499
1
Vertebral and Eye Anomalies, Cutis Aplasia Congenita, and Short Stature (VECS)
500
1
Ascher Syndrome
500
1
Eyes
500
1
Lips
500
1
Thyroid
501
1
Differential Diagnosis
501
1
Acromegaloid Features and Thickened Oral Mucosa (Hughes Syndrome)
501
1
Cutis Laxa Syndromes
502
6
Autosomal Recessive Form
502
1
Facies and Skin
503
1
Cardiorespiratory
503
1
Musculoskeletal
503
1
Gastrointestinal
503
1
Genitourinary
503
1
Oral
503
1
Autosomal Dominant Form
504
1
X-Linked Form or Occipital Horn Syndrome (Formerly Ehlers-Danlos Syndrome Type IX)
504
1
Differential Diagnosis
505
1
Pathology
506
1
Laboratory Aids
506
2
Cutis Laxa, Craniosynostosis, Mental Retardation, Unusual Facies, Skeletal Anomalies, and Ambiguous Genitalia (SCARF Syndrome)
508
1
De Barsy Syndrome
509
1
Gerodermia Osteodysplastica (Bamatter Syndrome)
510
1
Facies
510
1
Skin
510
1
Musculoskeletal
511
1
Oral Manifestations
511
1
Differential Diagnosis
511
1
Wrinkly Skin Syndrome
511
1
Ehlers-Danlos Syndromes
512
3
Collagen Structure and Biosynthesis
512
3
Ehlers-Danlos Syndrome Type I (Severe Form, EDS I) and Type II (Mild Form, EDS II)
515
3
General Features
515
1
Skin
515
1
Musculoskeletal System
515
1
Cardiovascular Defects
516
1
Craniofacial Features
516
2
Ehlers-Danlos Syndrome Type III (Familial Hypermobility)
518
1
Ehlers-Danlos Syndrome Type IV (Ecchymotic, Arterial, or Sack-Barabas Type)
519
2
Heredity
519
1
Biochemical and Molecular Pathology
519
1
Skin
519
1
Vascular Complications
519
1
Other Problems
520
1
Prenatal Diagnosis
520
1
Ehlers-Danlos Syndrome Type V (X-Linked)
521
1
Ehlers-Danlos Syndrome VI (Ocular-Scoliotic Type)
521
4
Differential Diagnosis
522
1
Laboratory Findings
522
3
Ehlers-Danlos Syndrome Type VII (Autosomal Dominant (Arthrochalasia Type Congenita) (EDS VIIA and B) and Autosomal Recessive (Dermatosparaxis Type) (EDS VIIC)
525
2
Classification
525
1
Biochemical and Molecular Pathology
525
1
Differential Diagnosis
525
2
Ehlers-Danlos Syndrome Type VIII (Periodontal Type)
527
1
Ehlers-Danlos Syndrome Type X (Fibronectin Defect)
527
1
Other Types of Ehlers-Danlos Syndrome
528
1
Dyskeratosis Congenita (Zinsser-Engman-Cole Syndrome, Scoggins Type, Autosomal Recessive Type)
528
4
General Aspects
529
1
Skin and Its Appendages
529
1
Mucosal Manifestations
530
1
Eyes and Ears
530
1
Gastrointestinal Features
530
1
Hematologic Manifestations
530
1
Immunologic Manifestations
531
1
Neoplasia
531
1
Central Nervous System
531
1
Other Findings
531
1
Differential Diagnosis
531
1
Laboratory Findings
531
1
Dyskeratosis Benigna Intraepithelialis Mucosae et Cutis Hereditaria
532
1
Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome, Jackson-Lawler Syndrome)
532
4
Heredity and Molecular Genetics
533
1
Skin and Skin Appendages
533
1
Laryngologic and Esophageal Abnormalities
534
1
Oral Manifestations
534
1
Differential Diagnosis
534
2
Hereditary Benign Intraepithelial Dyskeratosis (Witkop-Von Sallmann Syndrome)
536
1
Eyes
536
1
Oral Manifestations
536
1
Differential Diagnosis
536
1
Laboratory Aids
536
1
Leukoplakia, Tylosis, and Esophageal Carcinoma (Clarke-Howel-Evans Syndrome)
537
2
Skin
537
1
Gastrointestinal Tract
537
1
Oral Manifestations
537
1
Differential Diagnosis
538
1
Mucoepithelial Dysplasia Syndrome (Witkop Syndrome)
539
1
Hypohidrotic Ectodermal Dysplasia
540
5
Facies
540
1
Skin and Skin Appendages
540
1
Eyes
541
1
Otolaryngologic Manifestations
541
1
Other Findings
541
1
Oral Manifestations
541
1
Differential Diagnosis
541
1
Laboratory Aids
542
3
Hypohidrotic Ectodermal Dysplasia and Central Nervous System Malformations
545
1
Hypohidrotic Ectodermal Dysplasia, Hypothyroidism, and Agenesis of Corpus Callosum
545
1
Hypohidrotic Ectodermal Dysplasia, Hypothyroidism, and Ciliary Dyskinesia (ANOTHER Syndrome)
545
1
Hypohidrotic Ectodermal Dysplasia, Unusual Facies, Cataracts, and Mental and Motor Retardation
545
1
Ectodermal Dysplasia and Cleft Lip/Palate (Margarita Island Syndrome)
546
1
``Pure'' Hair-Nail-type Ectodermal Dysplasias
546
1
Ectodermal Dysplasia and Cerebellar Ataxia
546
1
Ectodermal Dysplasia and Arthrogryposis
546
1
Ectodermal Dysplasia, Syndactyly, and Mental Retardation
547
1
Ectodermal Dysplasia, Lipoatrophic Diabetes, and Acrorenal Field Defect (AREDYLD Syndrome)
547
1
Hidrotic Ectodermal Dysplasia (Clouston Syndrome)
547
2
CHILD Syndrome
549
1
Skin
549
1
Nails
549
1
Extremities
549
1
Other Findings
550
1
Diagnosis
550
1
Hair-Nail-Skin-Teeth Dysplasias (Dermo-Odonto-Dysplasia, Pilo-Dento-Ungular Dysplasia, Odonto-Onycho-Dermal Dysplasia, Odonto-Onychial Dysplasia, Tricho-Dermo-Dysplasia with Dental Alternations)
550
1
Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)
551
4
Skin
551
2
Eyes
553
1
Central Nervous System
553
1
Oral Manifestations
553
1
Other Abnormalities
553
1
Differential Diagnosis
553
1
Laboratory Aids
553
2
Naegeli Syndrome
555
1
LEOPARD Syndrome (Multiple Lentigines Syndrome, Progressive Cardiomyopathic Lentiginosis)
555
3
Facies
555
1
Skin
555
1
Cardiovascular System
556
1
Genitourinary System
556
1
Skeletal System
556
1
Central Nervous System
556
1
Oral Manifestations
556
1
Differential Diagnosis
556
1
Laboratory Aids
557
1
Macular Cutaneous and Mucosal Pigmentation, Myxomas, and Endocrine Neoplasia Syndrome (Carney Syndrome, NAME Syndrome, LAMB Syndrome)
558
3
Skin
558
1
Cardiac Myxomas
558
1
Eyes
559
1
Genitourinary Tract
559
1
Endocrine Abnormalities
559
1
Schwannomas
560
1
Myxoid Mammary Fibroadenoma and Ductal Adenoma
560
1
Oral Manifestations
560
1
Differential Diagnosis
560
1
Laboratory Aids
560
1
Waardenburg Syndrome
561
5
Facies
562
1
Eyes
562
2
Hair and Skin
564
1
Ears and Nose
564
1
Gastrointestinal System
564
1
Skeletal System
564
1
Genitourinary System
564
1
Oral Manifestations
564
1
Differential Diagnosis
564
1
Laboratory Aids
565
1
Albinism, Black Locks, Neural Crest Cellular Malmigration, and Sensorineural Deafness (ABCD) Syndrome
566
1
Ataxia-Telangiectasia (Louis-Bar Syndrome)
566
5
Genetics
568
1
Facies and Appearance
568
1
Central Nervous System
568
1
Eyes
568
1
Skin
569
1
Respiratory System
569
1
Neoplasia
569
1
Sexual Maturation
569
1
Oral Manifestations
569
1
Differential Diagnosis
569
1
Laboratory Aids
569
2
Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome)
571
5
Facies
571
1
Skin and Skin Appendages
571
1
Eyes
572
1
Central Nervous System
572
1
Musculoskeletal System
572
1
Genitourinary System
572
1
Miscellaneous Findings
572
1
Oral Manifestations
573
1
Differential Diagnosis
573
1
Laboratory Aids
573
3
Hereditary Hemorrhagic Telangiectasia (Osler-Rendu-Weber Syndrome)
576
4
Skin
576
1
Nasal Mucosa
576
1
Other Mucous Membranes
576
1
Lungs
576
1
Brain
577
1
Other Findings
577
1
Oral Manifestations
577
1
Pathology
577
1
Differential Diagnosis
577
1
Laboratory Aids
578
2
Acrolabial Telangiectasia
580
1
Pseudoxanthoma Elasticum
580
4
Skin
581
1
Eyes
581
1
Cardiovascular System
581
1
Oral Manifestations
581
1
Other Findings
581
1
Differential Diagnosis
582
1
Laboratory Aids
582
2
Progeria (Hutchinson-Gilford Syndrome)
584
2
Growth
584
1
Performance
584
1
Craniofacial Appearance
584
1
Musculoskeletal System
584
1
Cardiovascular System
585
1
Skin and Skin Appendages
585
1
Differential Diagnosis
585
1
Laboratory Aids
585
1
Werner Syndrome
586
4
Facies
587
1
Skin
587
1
Eyes
587
1
Hair
588
1
Musculoskeletal System
588
1
Cardiovascular System
588
1
Endocrine System
588
1
Central Nervous System
588
1
Oral Manifestations
588
1
Neoplasia
588
1
Differential Diagnosis
588
1
Laboratory Aids
588
2
Mulvihill-Smith Syndrome (Premature Aging, Microcephaly, Unusual Facies, Multiply Nevi, and Mental Retardation)
590
1
Wiedemann-Reutenstrauch Syndrome
590
3
Rothmund-Thomson Syndrome
593
3
Craniofacial Features
593
1
Skin and Skin Appendages
593
1
Central Nervous System
593
1
Endocrine System
593
1
Musculoskeletal System
593
1
Eyes
593
1
Neoplasia
593
1
Other Findings
594
1
Oral Manifestations
594
1
Differential Diagnosis
594
1
Laboratory Aids
595
1
Cockayne Syndrome
596
4
Facies
597
1
Eyes
597
1
Skin
597
1
Musculoskeletal Alterations
598
1
Nervous System
598
1
Other Findings
598
1
Oral Manifestations
598
1
Differential Diagnosis
598
1
Laboratory Aids
599
1
Xeroderma Pigmentosum
600
6
Face and Skin
603
1
Eyes
603
1
Central Nervous System
603
1
Oral Manifestations
604
1
Other Findings
604
1
Histologic Features
604
1
Differential Diagnosis
604
1
Laboratory Aids
604
2
Endocrine-Candidosis Syndrome (Candidosis, Idiopathic Hypoparathyroidism, and Hypoadrenalcorticism)
606
3
Heredity
606
1
Endocrine Systems
606
1
Skin and Skin Appendages
607
1
Central and Peripheral Nervous System
607
1
Ocular Findings
607
1
Gastrointestinal Findings
607
1
Blood Findings
608
1
Oral Manifestations
608
1
Differential Diagnosis
608
1
Laboratory Aids
608
1
Epidermolysis Bullosa
609
11
EB Simple Koebner Type
612
1
Systemic Manifestations
612
1
Oral Manifestations
613
1
Inheritance and Genetics
613
1
EB Simplex with Muscular Dystrophy (MD-EBS)
613
1
Inheritance and Genetics
613
1
EB Atrophicans Generalisata Gravis (Herlitz Type)
613
1
Systemic Manifestations
613
1
Oral Manifestations
613
1
Inheritance and Genetics
614
1
Dominant Dystrophic (Hypertrophic) form (Cockayne-Touraine Type)
614
1
Oral Manifestations
614
1
Inheritance and Genetics
615
1
Scarring EB with Dermolytic Blisters (Hallopeau-Siemens Type)
615
1
Oral Manifestations
616
1
Inheritance and Genetics
616
1
Oral Manifestations of Other Forms of EB
616
1
Differential Diagnosis
616
1
Laboratory Aids
617
3
Hyalinosis Cutis et Mucosae (Lipoid Proteinosis, Urbach-Wiethe Syndrome)
620
4
Skin and Skin Appendages
620
1
Ophthalmologic Abnormalities
620
1
Central Nervous System
621
1
Larynx and Other Mucosal Involvement
621
1
Oral Manifestations
621
1
Differential Diagnosis
621
1
Laboratory Aids
621
3
Restrictive Dermopathy (Late Fetal Epidermal Dysplasia, Type II)
624
2
Setleis Syndrome
626
1
Craniofacial Features
626
1
Other Findings
626
1
Differential Diagnosis
626
1
Goeminne Syndrome
627
1
Tongue Atrophy, Linear Skin Atrophy, Scarring Alopecia, and Anonychia
627
1
Keratitis-Ichthyosis-Deafness Syndrome (KID Syndrome)
627
3
Skin
628
1
Ears
628
1
Eyes
628
1
Nervous System
628
1
Oral Manifestations
628
1
Inheritance and Genetics
628
1
Differential Diagnosis
628
1
Laboratory Findings
628
2
Acrodermatitis Enteropathica
630
1
Atrichia, Somatic and Mental Retardation, and Skeletal Anomalies
631
1
Barraquer-Simons Partial Lipodystrophy Syndrome
631
3
Bazex-Dupre-Christol Syndrome
634
1
Costello Syndrome
634
4
Facies
635
1
Skin and Appendages
635
1
Intelligence
635
1
Musculoskeletal
635
1
Cardiovascular
636
1
Urogenital
636
1
Miscellaneous
636
1
Laboratory Findings
636
1
Differential Diagnosis
636
2
Macrocephaly, Cutis Marmorata Telangiectatica Congenita, and Syndactyly (Van Lohuizen Syndrome)
638
2
Craniofacial Anomalies
638
1
Eyes
638
1
Skin
638
1
Extremities
638
1
Central Nervous System
638
1
Other Findings
639
1
Diagnosis
639
1
Cutis Verticis Gyrata
640
1
Facial Hemangiomas, Sternal Nonunion, Supraumbilical Midline Raphe, Vascular Anomalies, and Dandy-Walker Malformation (PHACES)
641
2
Sternal Non-Union
641
1
Supraumbilical Raphe
642
1
Hemangiomas
642
1
Vascular Anomalies
642
1
Dandy-Walker Malformation
642
1
Diagnosis
642
1
Hyperkeratosis Palmoplantaris Striata, Pili Torti, Hypohidrosis, Oligodontia, and Sensorineural Hearing Loss
643
1
Palmoplantar Hypokeratosis, Hypotrichosis, Hypodontia, Enamel and Dentin Dysplasia, Cleft Palate, Strabismus, and Cryptorchidism
643
1
Congenital Hypertrichosis Universalis (Ambras Syndrome)
643
1
Congenital Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis
644
1
Ichthyosis Follicularis, Atrichia, and Photophobia (IFAP) Syndrome
645
1
Johnson-McMillian Syndrome
645
1
Laryngo-Onycho-Cutaneous Syndrome (LOGIC Syndrome)
645
1
Kindler and Weary Syndromes
646
1
Skin
646
1
Oral Manifestations
646
1
Other Mucosal Involvement
646
1
Diagnosis
647
1
Infantile Systemic Hyalinosis
647
1
Linear Skin Defects and Microphthalmia (MIDAS Syndrome)
648
2
Skin
649
1
Eyes
649
1
Ears
649
1
Central Nervous System
649
1
Heart
649
1
Genital Anomalies
649
1
Miscellaneous Findings
649
1
Diagnosis
649
1
Melanoleukoderma, Hypodontia, Hypotrichosis, Somatic and Mental Retardation, and Infantilism
650
1
Trichothiodystrophy (Tay Syndrome, IBIDS Syndrome)
650
3
Anomalies of the Hair
651
1
Heredity
651
1
Differential Diagnosis
652
1
Laboratory Aids
652
1
CHIME Neuroectodermal Dysplasia Syndrome
653
1
Syndromes with Craniosynostosis: General Aspects and Well-Known Syndromes
654
17
Apert Syndrome (Acrocephalosyndactyly)
654
4
Craniofacial Features
654
1
Growth
655
1
Central Nervous System
655
1
Hands and Feet
656
1
Skin
656
1
Other Findings
657
1
Differential Diagnosis
657
1
Prenatal Diagnosis
657
1
Crouzon Syndrome (Craniofacial Dysostosis)
658
1
Craniofacial Features
658
1
Central Nervous System
658
1
Other Findings
659
1
Differential Diagnosis
659
1
Pfeiffer Syndrome
659
3
Clinical Subtypes
660
1
Craniofacial Features
660
1
Central Nervous System
661
1
Hands and Feet
661
1
Other Findings
661
1
Differential Diagnosis
661
1
FGFR 3-Associated Coronal Synostosis Syndrome (Muenke Craniosynostosis)
662
2
Genetics
662
1
Craniofacial Features
662
1
Performance
663
1
Other Clinical Findings
663
1
Radiographic Findings
663
1
Diagnosis
663
1
Prenatal Diagnosis
663
1
Saethre-Chotzen Syndrome
664
2
Craniofacial Features
664
1
Performance
664
1
Hands and Feet
664
1
Other Findings
665
1
Differential Diagnosis
665
1
Laboratory Aids
665
1
Carpenter Syndrome (Acrocephalopolysyndactyly)
666
2
Craniofacial Features
666
1
Performance and Central Nervous System
667
1
Hands and Feet
667
1
Cardiovascular Anomalies
667
1
Other Abnormalities
667
1
Differential Diagnosis
667
1
Cloverleaf Skull (Kleeblattschadel)
668
3
Syndromes with Craniosynostosis: Miscellaneous Syndromes
671
33
Acrocephalospondylosyndactyly
671
1
Acrocraniofacial Dysostosis
671
1
Antley-Bixler Syndrome
671
1
Differential Diagnosis
672
1
Armendares Syndrome
672
2
Baller-Gerold Syndrome
674
1
Beare-Stevenson Cutis Gyrata Syndrome
674
1
Berant Syndrome
674
1
CAP Syndrome
674
1
Calabro Syndrome
675
1
Calvarial Hyperostosis
675
1
Chitayat Hypophosphatemia Syndrome
675
1
Christian Syndrome
676
1
COH Syndrome
676
1
Cranioectodermal Dysplasia (Sensenbrenner Syndrome)
677
1
Craniofacial Dyssynostosis
677
1
Craniofrontonasal Syndrome
678
1
Craniomicromelic Syndrome
679
1
Craniorhiny
680
1
Craniosynostosis, Boston Type
680
1
Craniosynostosis/Ectopia Lentis
680
1
Craniosynostosis, Philadelphia Type
681
1
Craniotelencephalic Dysplasia
681
1
Crouzonodermoskeletal Syndrome
681
1
Curry-Jones Syndrome
682
1
Elejalde Syndrome
682
1
Fontaine-Farriaux Syndrome
682
1
Frydman Trigonocephaly Syndrome
682
1
Fryns Craniosynostosis Syndrome
682
1
Gomez-Lopez-Hernandez Syndrome (Cerebello-Trigeminal-Dermal Dysplasia)
683
1
Gorlin-Chaudhry-Moss Syndrome
684
1
Hall Syndrome
685
1
Herrmann Syndrome
685
1
Hersh Syndrome
686
1
Holoprosencephaly/ Craniosynostosis Syndrome (Genoa Syndrome)
686
1
Hunter-McAlpine Syndrome
686
1
Hypomandibular Faciocranial Syndrome
687
1
Ives-Houston Syndrome
688
1
Jackson-Weiss Syndrome
688
2
Jones Craniosynostosis/Dandy- Walker Syndrome
690
1
Kozlowski Craniosynostosis Syndrome
690
1
Lampert Syndrome
691
1
Lin-Getting Syndrome
691
1
Lowry Syndrome
691
1
Lowry-MacLean Syndrome
691
1
Meier-Gorlin (Ear-Patella-Short Stature) Syndrome
691
2
Osteocraniostenosis
693
1
Pfeiffer Type Cardiocranial Syndrome
693
1
Pfeiffer Type Dolichocephalosyndactyly
693
1
Richieri-Costa Overgrowth Syndrome
693
1
Sagittal Synostosis/Auricular Anomalies Syndrome (Idaho Syndrome II)
693
1
Sakati Syndrome
694
1
Salinas Syndrome
694
1
San Francisco Syndrome
695
1
Say-Barber Syndrome
695
1
Say-Meyer Trigonocephaly Syndrome
695
1
Say-Poznanski Syndrome
695
1
SCARF Syndrome
695
1
Shprintzen-Goldberg Syndrome
696
2
Spear-Mickle Syndrome
698
1
Spondyloepiphyseal Dysplasia/Craniosynostosis Syndrome
698
1
Ventruto Syndrome
698
1
Wisconsin Syndrome
698
6
Syndromes of Abnormal Craniofacial Contour
704
20
Anencephaly
704
3
Craniofacial Features
704
1
Associated Anomalies
705
1
Differential Diagnosis
705
1
Diagnosis and Laboratory Aids
706
1
Encephaloceles
707
5
Chromosomal Syndromes
708
1
Monogenic Syndromes
709
1
Teratogenic Causes
709
1
Disruptive Causes
709
1
Frontonasal Malformation
709
1
Von Voss-Cherstvoy Syndrome
709
1
Encephalocele/Absent Corpus Callosum Association
710
1
Encephalocele/Clefting Association
710
1
Encephalocele/Craniosynostosis Association
710
1
Encephalocele with Dandy-Walker and Arnold-Chiari Malformations
710
1
Encephalocele/Ectrodactyly Association
710
1
Encephalocele/Hypothalamic-Pituitary Dysfunction Association
710
1
Encephalocele/ Klippel-Feil/ Iniencephaly Association
710
1
Encephalocele/Myelomeningocele Association
710
1
Encephalocele/Oculo-Auriculo-Vertebral Spectrum
710
1
Miscellaneous and/or Occasional Involvement
710
2
The Holoprosencephalic Disorders
712
5
Epidemiology
712
1
Molecular Studies
713
1
Chromosome Abnormalities
713
1
Diagnosis and Recurrence Risk
713
1
Central Nervous System
713
2
Face
715
1
Differential Diagnosis
715
1
Laboratory Aids
716
1
Otocephaly (Agnathia)
717
2
Craniofacial Features
718
1
Other Abnormalities
718
1
Differential Diagnosis
718
1
Nasal Aplasia (Arhinia), Heminasal Aplasia with or without Proboscis, and Their Associations
719
3
Aprosencephaly
722
2
Syndromes Affecting the Central Nervous System
724
41
Myotonic Dystrophy (Steinert Syndrome)
724
4
Facies
724
1
Eyes
724
1
Auditory System
724
1
Hair and Skin
724
1
Central Nervous System
724
1
Cardiovascular System
725
1
Respiratory System
725
1
Gastrointestinal System
725
1
Musculoskeletal System
725
1
Endocrine System
726
1
Oral Manifestations
726
1
Differential Diagnosis
726
1
Laboratory Aids
726
2
Isolated Lissencephaly Sequence (Classical Lissencephaly)
728
1
Craniofacial Features
728
1
Central Nervous System
728
1
Other Anomalies
729
1
Clinical Course
729
1
Differential Diagnosis
729
1
Laboratory Aids
729
1
Miller-Dieker Syndrome
729
2
Genetics
729
1
Craniofacial Features
730
1
Central Nervous System
730
1
Other Anomalies
730
1
Differential Diagnosis
731
1
Laboratory Aids
731
1
Walker-Warburg Syndrome (HARD±E Syndrome, Warburg Syndrome, Cobblestone Lissencephaly)
731
2
Craniofacial Features
731
1
Central Nervous System
731
1
Eyes
731
1
Neuromuscular System
732
1
Other Findings
732
1
Differential Diagnosis
732
1
Laboratory Aids
732
1
Familial Dysautonomia (Riley-Day Syndrome, Hereditary Sensory and Autonomic Neuropathy Type III)
733
3
Facies
733
1
Nervous System
733
1
Skin
734
1
Eyes
734
1
Oral Manifestations
734
1
Differential Diagnosis
734
1
Laboratory Aids
734
2
Lesch-Nyhan Syndrome (Hypoxanthine-Guanine Phosphoribosyltransferase (HGPRT) Deficiency)
736
2
Genetics and Biochemistry
736
1
Pathogenesis
736
1
Growth
736
1
Neurological Features
736
1
Hyperuricemia and Gout
737
1
Other Features
737
1
Differential Diagnosis
737
1
Laboratory Aids
737
1
Hereditary Sensory Syndromes with Oral Mutilation
738
3
Facies and General Apperarance
739
1
Anhidrosis
739
1
Musculoskeletal System
739
1
Nervous System
739
1
Oral Manifestations
740
1
Differential Diagnosis
740
1
Laboratory Aids
740
1
Cranial Nerve Syndromes Involving III, IV, V, VI
741
3
Anatomical Guidelines
741
1
Orbital Apex (Rollet) Syndrome
741
1
Superior Orbital Fissure (Rochon-Duvigneau) Syndrome
741
1
Petrosphenoidal Space (Jacod) Syndrome
741
1
Cavernous Sinus (Foix) Syndrome
742
1
Apex of the Petrous Bone (Gradenigo) Syndrome
742
1
Other Syndromes Involving Eye Movements
742
1
Duane Syndrome
742
1
Fisher Variant of Landry-Guillain-Barre Syndrome
742
1
Tolosa-Hunt Syndrome
742
1
Syndromes of V
742
1
Other Syndromes Involving the Vth Cranial Nerve During Its Peripheral Course
742
1
Reader (Paratrigeminal) Syndrome
742
1
Pterygopalatine Fossa (Behr) Syndrome
742
1
Trotter Syndrome
742
1
Godtfredsen (Cavernous Sinus-Nasopharyngeal Tumor) Syndrome
742
1
Syndromes of Cranial Nerves Involving the Midbrain and Pons
742
2
Marcus Gunn Phenomenon (Jaw-Winking and Winking-Jaw Syndromes (Marcus Gunn and Inverse Marcus Gunn Syndromes), Marin Amat Phenomenon)
744
1
Some Disorders of Facial Pain
745
5
Trigeminal Neuralgia (Tic Douloureux)
745
1
Glossopharyngeal Neuralgia
746
1
Post-Zoster Neuralgia (Geniculate Ganglion Syndrome, Ramsay Hunt Syndrome, Cephalic Zoster Syndrome)
747
1
Still Other Facial Pains
748
1
Cluster Headaches (Horton's Headache)
748
1
Atypical Facial Pain
748
1
Organic Facial Pain
748
1
Dental Disease
748
1
Neurities
748
1
Indeterminate Facial Pain
748
1
Angina Pectoris
748
1
Trigeminal Neuropathy
749
1
Nasopharyngeal and Cranial Lesions Causing Facial Pain
749
1
Dental Pain
749
1
Symptomatic Elongated Styloid Process (Eagle Syndrome)
749
1
Glossodynia (Glossopyrosis, Burning Tongue, Oral-Lingual Paresthesia)
750
1
Oromandibular Dystonia with Blepharospasm (Meige Syndrome, Brueghel Syndrome)
750
1
Syndromes Involving the VIIth Nerve
751
3
Melkersson-Rosenthal Syndrome
751
1
Asymmetric Crying Facies (Cardiofacial Syndrome)
752
2
Autosomal Dominant Geniospasm (Chin Quivering)
754
1
Gustatory Lacrimation (Paroxysmal Lacrimation, Crocodile Tears Syndrome, Bogorad Syndrome, and Gustolacrimal Reflex)
754
2
Gustatory Sweating and Flushing-Auriculotemporal and Chorda Tympani Syndromes (Frey Syndrome)
756
1
Gustatory Rhinorrhea
757
1
Angelman Syndrome
758
2
Facies
758
1
Skeletal Changes
758
1
Eyes
758
1
Central Nervous System
758
1
Laboratory Aids
758
1
Diagnosis
759
1
Syndromes of Lower Cranial Nerves and Medulla
760
2
Avellis Syndrome
760
1
Schmidt Syndrome
761
1
Jackson-Mackenzie Syndrome
761
1
Wallenberg Syndrome
761
1
Dejerine Syndrome
761
1
Cestan-Chenais Syndrome
761
1
Vernet (Jugular Foramen) Syndrome
761
1
Villaret (Retroparotid Space) Syndrome
761
1
Collet-Sicard Syndrome
761
1
Tapia (Vagohypoglossal) Syndrome
761
1
Garcin (Half-Base) Syndrome
761
1
Progressive Bulbar Palsy
762
1
Duchenne Syndrome (Progressive Bulbar Palsy, Glossopharyngolabial Paralysis)
762
1
Fasio-Londe Syndrome
762
1
Horner Syndrome
762
1
X-Linked Mental and Somatic Retardation, Genital Hypoplasia, and Sensorineural Hearing Loss (Juberg-Marsidi Syndrome)
762
1
Clinical Findings
762
1
Craniofacial Findings
763
1
Ocular System
763
1
Central Nervous System
763
1
Musculoskeletal System
763
1
Genitourinary System
763
1
Auditory Findings
763
1
Laboratory Findings
763
1
Diagnosis
763
1
Bobble-Head Doll Syndrome
763
1
Unilateral Hypoglossal Palsy
764
1
Neck-Tongue Syndrome
764
1
Syndromes with Contractures
765
25
Fetal Akinesia Deformation Sequence (Pena-Shokeir I Syndrome, FADS)
765
2
Facies
765
1
Musculoskeletal System
765
1
Genitourinary Abnormalities
765
1
Cardiac Anomalies
765
1
Oral Manifestations
765
1
Pathology
765
1
Differential Diagnosis
766
1
Laboratory Aids
767
1
Cerebro-Oculo-Facial-Skeletal Syndrome (Pena-Shokeir II Syndrome, COFS)
767
2
Facies
767
1
Musculoskeletal
767
1
Central Nervous System
768
1
Other Findings
768
1
Differential Diagnosis
768
1
Laboratory Aids
768
1
Neu-Laxova Syndrome
769
2
Facies
769
1
Musculoskeletal Alterations
769
1
Central Nervous System
769
1
Urogenital
769
1
Skin
769
1
Cardiac Anomalies
769
1
Oral Manifestations
769
1
Differential Diagnosis
769
1
Laboratory Aids
770
1
Multiple Pterygium Syndrome
771
2
Facies
771
1
Musculoskeletal Alterations
771
1
Muscellaneous Findings
771
1
Oral Manifestations
772
1
Differential Diagnosis
772
1
More Lethal Multiple Pterygium Phenotypes
773
2
Popliteal Pterygium Syndrome (Facio-Genito-Popliteal Syndrome)
775
3
Facies
775
1
Cutaneous and Musculoskeletal Anomalies
775
1
Genitourinary System
775
1
Oral Manifestations
775
1
Differential Diagnosis
775
1
Laboratory Aids
775
3
Bartsocas-Papas Syndrome
778
1
Craniofacies
778
1
Extremities
778
1
Genitourinary Findings
778
1
Miscellaneous Findings
778
1
Diagnosis
778
1
Chondrodystrophic Myotonia (Schwartz-Jampel Syndrome, Osteochondromuscular Dystrophy)
779
3
Facies
780
1
Eyes
780
1
Musculoskeletal Alterations
780
1
Other Findings
780
1
Oral Manifestations
780
1
Differential Diagnosis
780
1
Laboratory Aids
781
1
Marden-Walker Syndrome
782
1
Facies
782
1
Central Nervous System
782
1
Musculoskeletal
782
1
Heart Anomalies
782
1
Renal Anomalies
782
1
Oral Manifestations
782
1
Differential Diagnosis
782
1
Laboratory Aids
783
1
Marden-Walker-Like Syndrome without Psychomotor Retardation
783
1
Craniocarpotarsal Dysplasia (Whistling Face Syndrome, Freeman-Sheldon Syndrome, Windmill Vane Hand Syndrome)
783
3
Facies
783
1
Eyes
783
1
Nose
784
1
Musculoskeletal System
784
1
Other Findings
784
1
Oral Manifestations
784
1
Differential Diagnosis
784
1
Laboratory Aids
784
2
Trismus-Pseudocampylodactyly Syndrome (Hecht-Beals Syndrome)
786
2
Facies
786
1
Musculoskeletal Alterations
786
1
Oral Manifestations
787
1
Differential Diagnosis
787
1
Laboratory Aids
788
1
Unusual Facies, Camptodactyly with Fibrous Tissue Hyperplasia, Knuckle Pads, and Skeletal Dysplasia
788
2
Branchial Arch and Oral-Acral Disorders
790
60
Oculo-Auriculo-Vertebral Spectrum (Hemifacial Microsomia, Goldenhar Syndrome)
790
8
Facies
792
1
Eye
792
2
Ear
794
1
Central Nervous System
794
1
Trachea and Lung
794
1
Heart
794
1
Skeletal Alterations
794
1
Kidney
794
1
Gastrointestinal Anomalies
794
1
Oral Manifestations
794
1
Differential Diagnosis
795
1
Laboratory Aids
795
3
Oculoauriculofrontonasal Spectrum (Ophthalmofrontonasal Dysplasia, Golabi-Gonzales-Edwards Syndrome)
798
1
Central Nervous System
798
1
Heart
798
1
Skeletal Anomalies
798
1
Diagnosis
798
1
Mandibulofacial Dysostosis (Treacher Collins Syndrome, Franceschetti-Zwahlen-Klein Syndrome)
799
3
Facies
799
1
Skull
799
1
Eyes
799
1
Ears
800
1
Nose
800
1
Mental Status
800
1
Oral Findings
800
1
Differential Diagnosis
800
1
Laboratory Aids
800
2
Autosomal Dominant Mandibulofacial Dysostosis (Bauru Type)
802
1
Acrofacial Dysostosis, Type Nager (Preaxial Acrofacial Dysostosis)
802
3
Craniofacial Findings
803
1
Musculoskeletal System
803
1
Cardiovascular System
803
1
Genitourinary System
803
1
Central Nervous System
803
1
Miscellaneous Findings
804
1
Diagnosis
804
1
Prenatal Diagnosis
804
1
Postaxial Acrofacial Dysostosis, Cupped Ears, and Conductive Hearing Loss (Miller Syndrome, Genee-Wiedemann Syndrome)
805
2
Craniofacial Findings
806
1
Musculoskeletal System
806
1
Other Findings
806
1
Diagnosis
806
1
Acrofacial Dysostosis, Type Arens or Tel Aviv
807
1
Acrofacial Dysostosis, Type Catania
807
1
Acrofacial Dysostosis, Type Palagonia
807
1
Acrofacial Dysostosis, Type Reynolds
807
2
Acrofacial Dysostosis, Type Rodriguez
809
1
Maxillofacial Dysostosis, Autosomal Dominant
809
1
Maxillofacial Dysostosis, X-Linked (Toriello Syndrome)
809
1
Branchio-Oto-Renal Syndrome (BOR Syndrome)
810
3
Craniofacial Findings
810
1
Ears
810
1
Branchial Cysts/Fistulas
811
1
Genitourinary System
811
1
Diagnosis
811
2
Wildervanck Syndrome (Cervico-Oculo-Acoustic Syndrome, Klippel-Feil Anomaly Plus)
813
1
Facial and Ocular Findings
813
1
Auditory System
813
1
Musculoskeletal System
813
1
Central Nervous System
813
1
Diagnosis
813
1
Townes-Brocks Syndrome (Lop Ears, Imperforate Anus, Triphalangeal Thumbs, and Sensorineural Hearing Loss, REAR Syndrome)
814
3
Ears
814
2
Gastrointestinal System
816
1
Musculoskeletal System
816
1
Genitourinary System
816
1
Cardiovascular System
816
1
Central Nervous System
816
1
Diagnosis
816
1
Laboratory Aids
816
1
Oral-Acral Syndrome, Type Verloes-Koulischer
817
1
Meier-Gorlin (Ear-Patella-Short Stature) Syndrome
817
1
Carnevale Syndrome
818
1
Hypertelorism-Microtia-Clefting Syndrome (Bixler Syndrome, HMC Syndrome)
819
1
Digeorge Anomaly
820
2
Etiology
820
1
Clinical History
821
1
Parathyroids
821
1
Thymus
821
1
Cardiovascular Anomalies
821
1
Craniofacial Anomalies
821
1
Other Abnormalities
821
1
Diagnosis and Differential Diagnosis
821
1
Oromandibular-Limb Hypogenesis Syndromes
822
10
General Aspects
822
1
Nosology
822
1
Etiology
823
1
Pathogenesis
824
1
Differential Diagnosis
824
1
Recurrence Risk
824
2
Moebius Syndrome
826
2
Hypoglossia-Hypodactylia Syndrome
828
1
Hanhart Syndrome
829
1
Glossopalatine Ankylosis Syndrome
830
1
Charlie M. Syndrome
830
1
Limb Deficiency-Splenogonadal Fusion Syndrome
830
2
Oral-Facial-Digital Syndromes
832
12
OFD Type I (Papillon-Leage/Psaume Syndrome)
832
1
Facies
832
1
Skin and Skin Appendages
833
1
Skeletal Manifestations
833
1
Central Nervous System
833
1
Urinary System
833
1
Oral Manifestations
833
1
Differential Diagnosis
834
1
Laboratory Aids
834
2
OFD Type II (Mohr Syndrome)
836
1
Facies
836
1
Skeletal Alterations
836
1
Central Nervous System
836
1
Other Findings
836
1
Oral Manifestations
836
2
Differential Diagnosis
838
1
Laboratory Aids
838
1
OFD Type III [See-Saw Winking with Oral-Facial-Digital Anomalies and Postaxial Polydactyly of the Hands and F (Sugarman Syndrome) ]
838
1
OFD Type IV (Oral-Facial-Digital Syndrome with Tibial Dysplasia, Baraitser-Burn Type)
838
2
OFD Type V [Median Cleft of Upper Lip and Postaxial Polydactyly of Hands and Feet (Thurston Syndrome) ]
840
1
OFD Type VI [Polydactyly, Cleft Lip/Palate, Lingual Lump and Cerebellar Anomalies (Varadi Syndrome) ]
840
2
OFD Type VII [Facial Asymmetry, Pseudo Cleft Lip, Lobula Tongue, and Hydronephrosis (Whelan Syndrome) ]
842
1
OFD Type VIII (OFD and Retinal Abnormalities)
843
1
Miscellaneous or Unclassifiable Syndromes
843
1
Differential Diagnosis
843
1
Otopalatodigital Syndrome Type I
844
3
Craniofacial and Orofacial Findings
844
1
Auditory System
844
1
Central Nervous System
845
1
Musculoskeletal System
845
1
Diagnosis
846
1
Otopalatodigital Syndrome, Type II
847
3
Craniofacial Findings
847
1
Central Nervous System
847
1
Musculoskeletal System
847
1
Other Findings
848
1
Auditory System
848
1
Laboratory Aids
848
1
Diagnosis
848
2
Orofacial Clefting Syndromes: General Aspects
850
27
Facial Clefts and Associated Anomalies
850
10
Introduction
850
1
Embryology
850
2
Epidemiology
852
1
Cleft Lip with or without Cleft Palate
852
1
Isolated Cleft Palate
853
3
Genetics
856
2
Recurrence Risks
858
1
Associated Anomalies
859
1
Skull, Facial Bones, and Denitition
860
1
Prenatal Diagnosis
860
1
Robin Sequence
860
5
Clinical Manifestations
862
3
Robin Sequence, Congenital Thrombocytopenia, Agenesis the Corpus Callosum, Distinctive Facies, and Developmental Delay
865
1
Robin Sequence, Unusual Facies, and Digital Anomalies
865
1
Robin Sequence, Ventricular Extrasystoles with Syncopal Episodes, and Digital Hypoplasia
865
1
Robin Sequence, Short Stature, Vertebral Anomalies, Shor Neck, and Mental Retardation
865
1
Robin Sequence, Mental Retardation, and Brachydactyly
866
1
Noncleft Palatal Anomalies
866
1
Tessier Clefting System
867
1
Lateral (Transverse) Facial Clefts
868
3
Oblique Facial Clefts
871
2
Median Cleft of the Upper Lip
873
1
Lateral Sinus of the Upper Lip
874
1
Median Cleft of Upper Lip, Double Frenum, and Hamartoma of Columella and/or Anterior Alveolar Ridge
874
2
Median Mandibular Cleft (Tessier Type 30)
876
1
Orofacial Clefting Syndromes: Common and Well-Known Syndromes
877
35
Cerebro-Costo-Mandibular Syndrome (Rib-Gap Syndrome)
877
1
EEC Syndrome (Electrodactyly-Ectodermal Dysplasia-Clefting Syndrome)
878
5
Facies
879
1
Extremities
879
1
Eyes
879
1
Skin, Hair, and Nails
879
1
Central Nervous System
879
1
Genitourinary System
879
1
Endocrine System
879
1
Otolaryngologic Manifestations
879
1
Oral Manifestations
879
1
Differential Diagnosis
880
3
ECP Syndrome (Ectrodactyly-Cleft Palate Syndrome)
883
1
Ectrodactyly of the Feet and Cleft Palate (Patterson-Stevenson-Fontaine Syndrome)
883
1
Cleft Lip/Palate, Cardiac Anomalies, Genital Anomalies, and Ectrodactyly (Acro-Cardio-Facial Syndrome)
883
1
Cleft Lip/Palate, Ectodermal Dysplasia with [Hay-Wells (AEC) Syndrome] or without [Rapp-Hodgkin Syndrome] Ankyloblepharon Filiforme
883
3
Clinical Findings
883
1
Craniofacial Findings
884
1
Skin
884
1
Ocular System
884
1
Genitourinary System
884
1
Other
884
1
Diagnosis
884
2
Bowen-Armstrong Syndrome (Cleft Lip-Palate, Ectodermal Dysplasia, and Mental Retardation)
886
1
Filiform Adhesions of the Eyelids and Cleft Lip-Palate
887
1
Larsen Syndrome
888
3
Facies
888
1
Skeletal System
888
1
Cardiovascular Anomalies
889
1
Central Nervous System
889
1
Oral Manifestations
889
1
Differential Diagnosis
889
2