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Tables of Contents for Hereditary Hearing Loss and Its Syndromes
Chapter/Section Title
Page #
Page Count
Contributors
xix
Genetic Hearing Loss---A Brief History
1
2
Robert J. Gorlin
Syndrome Diagnosis and Investigation in the Hearing-impaired Patient
3
5
William Reardon
Epidemiology, Etiology, Genetic Patterns, and Genetic Counseling
8
9
William Reardon
Helga V. Toriello
Catherine A. Downs
Embryology of the Ear
17
20
Kathleen K. Sulik
Douglas A. Cotanche
Genetic Hearing Loss with No Associated Abnormalities
37
46
Shelley D. Smith
R. Thomas Taggart
Autosomal Dominant Nonsyndromic Hearing Loss
37
21
Autosomal dominant progressive high-frequency hearing loss
37
15
Autosomal dominant mid-frequency hearing loss
52
2
Autosomal dominant low-frequency hearing loss
54
3
Autosomal dominant nonprogressive hearing loss
57
1
Autosomal Recessive Nonsyndromic Hearing Loss
58
17
Autosomal recessive congenital/prelingual profound hearing loss
59
14
Autosomal recessive progressive hearing loss
73
2
X-linked Nonsyndromic Hearing Loss
75
3
Mitochondrial Nonsyndromic Hearing Loss
78
5
Glomus tympanicum (non-chromaffin paragangliomas, chemodectomas, familial glomus tumors) and hearing loss
81
2
Genetic Hearing Loss Associated with External Ear Abnormalities
83
43
Judith Allanson
Mandibulofacial dysostosis (Treacher Collins syndrome)
83
3
Nager acrofacial dysostosis syndrome (preaxial acrofacial dysostosis)
86
3
Postaxial acrofacial dysostosis, cupped ears, and conductive hearing loss (Miller syndrome, Genee-Wiedemann syndrome)
89
2
Oculo-auriculo-vertebral spectrum (hemifacial microsomia, Goldenhar syndrome)
91
3
Townes-Brocks syndrome (lop ears, imperforate anus, triphalangeal thumbs, and sensorineural hearing loss)
94
2
Branchio-oto-renal (BOR) syndrome (branchio-oto syndrome, ear-pit hearing loss syndrome)
96
5
Lacrimo-auriculo-dento-digital (LADD) syndrome (cup-shaped ears, anomalies of the lacrimal ducts and teeth, and mixed hearing loss) (Levy-Hollister syndrome)
101
1
Charge association
102
4
Dysmorphic pinnae, mental retardation, and mixed hearing loss
106
1
Dysmorphic pinnae, facial palsy, and stapedial anomalies
107
1
Lop ears, micrognathia, and conductive hearing loss
108
1
Dysmorphic pinnae and conductive hearing loss
108
2
Familial semicircular canal malformations with external and middle ear abnormalities
110
1
Branchio-oculo-facial (BOF) syndrome (pseudocleft of the upper lip, cleft lip--palate, cervical thymus, and conductive hearing loss)
110
1
Congenital aural atresia
111
1
Autosomal dominant aural atresia, microtia, and conductive hearing loss
111
1
Autosomal recessive aural atresia, microtia, and conductive hearing loss
112
2
Aural atresia, vertical talus, and conductive hearing loss (Rasmussen syndrome)
114
1
Aural atresia, mental retardation, multiple congenital anomalies, and conductive loss (Cooper-Jabs syndrome)
114
1
Aural atresia, microtia, aortic arch anomalies, and conductive hearing loss
115
1
Aural atresia, microtia, hypertelorism, facial clefting, and conductive hearing loss (HMC syndrome, Bixler syndrome)
116
1
Aural atresia, microtia, unusual facies, pseudopapilledema, and mixed hearing loss
117
1
Aural atresia, microtia, skin mastocytosis, short stature, and conductive hearing loss
117
1
Aural atresia and conductive hearing loss (Hefter-Ganz syndrome)
118
1
Cupped pinnae, microcephaly, mental retardation, and sensorineural hearing loss
118
1
Maxillofacial dysostosis, X-linked
119
1
Otofaciocervical syndrome
120
1
Short stature, hip dislocation, ear malformations, and conductive hearing loss (coxoauricular syndrome)
120
2
Thickened ear lobes and incudostapedial abnormalities
122
1
Wilms tumor, auditory canal stenosis, and conductive hearing loss
123
1
Branchio-oto-costal syndrome
124
1
Marres syndrome
124
1
Koch-Kumar syndrome
124
1
Gripp syndrome
125
1
Appendix
125
1
Genetic Hearing Loss Associated with Eye Disorders
126
40
William J. Kimberling
Usher syndrome: retinitis pigmentosa, sensorineural hearing loss, and vestibular areflexia
126
5
Alstrom syndrome: pigmentary retinopathy, diabetes mellitus, obesity, and sensorineural hearing loss
131
2
Edwards retinopathy syndrome: pigmentary retinopathy, diabetes mellitus, hypogonadism, mental retardation, and sensorineural hearing loss
133
1
Young syndrome: retinitis pigmentosa, nystagmus, hemiplegic migraine, and sensorineural hearing loss
134
1
Usher syndrome with vitiligo: retinitis pigmentosa, vitiligo, and sensorineural hearing loss
135
1
Hersh syndrome: pigmentary retinopathy, unusual facial phenotype, mental retardation, and sensorineural hearing loss
135
1
Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness
136
1
Choroideremia and congenital hearing loss with stapes fixation
136
1
Adult Refsum syndrome (ARD, heredopathia atactica polyneuritiformis)
137
3
Infantile Refsum syndrome
140
1
Reinstein syndrome: inverse retinitis pigmentosa, hypogonadism, and sensorineural hearing loss
141
1
Miscellaneous disorders of pigmentary retinopathy and sensorineural hearing loss
142
1
Myopia and congenital sensorineural hearing loss
142
1
Donnai-Barrow syndrome: myopia, hypertelorism, agenesis of corpus callosum, diaphragmatic hernia, exomphalos, and sensorineural hearing loss
143
1
Holmes-Schepens syndrome: myopia, hypertelorism, and congenital sensorineural hearing loss (facio-oculo-acoustico-renal syndrome)
143
1
Harboyan syndrome: congenital corneal dystrophy and progressive sensorineural hearing loss
144
1
Hallermann-Doering syndrome: familial band keratopathy, abnormal calcium metabolism, and hearing loss
145
1
Ehlers-Danlos syndrome, type VI (keratoconus/keratoglobus, blue sclerae, loose ligaments, and hearing loss) (EDS VI, ocular form)
146
2
Ramos-Arroyo-Saksena syndrome: corneal anesthesia, retinal abnormalities, mental retardation, unusual face, and sensorineural hearing loss
148
1
DeHauwere syndrome: iris dysplasia, hypertelorism, psychomotor retardation, and sensorineural hearing loss
148
1
Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss
149
1
Abruzzo-Erickson syndrome: ocular coloboma, cleft palate, short stature, hypospadias, and mixed hearing loss
149
1
Aniridia and sensorineural hearing loss
150
1
Jan syndrome: congenital total color blindness, cataracts, hyperinsulinism, and sensorineural hearing loss
150
1
Hansen syndrome: progressive cone dystrophy, liver degeneration, endocrine dysfunction, and sensorineural hearing loss
151
1
Beighton syndrome: rod-cone dystrophy, renal dysfunction, and sensorineural hearing loss
151
1
IVIC syndrome: ophthalmoplegia, radial ray hypoplasia, thrombocytopenia, and congenital mixed hearing loss (oculo-oto-radial syndrome)
152
1
Cataracts and progressive sensorineural hearing loss
152
1
Nucci syndrome: congenital cataracts, hypercholesterolemia, spasticity of lower limbs, and sensorineural hearing loss
153
1
Schaap syndrome: congenital cataracts, hypogonadism, hypertrichosis, and hearing loss
153
1
Oculo-facio-cardio-dental (OFCD) syndrome
153
1
Cataracts, sensorineural hearing loss, Down syndrome--like facial appearance, short stature, and mental retardation
154
1
Congenital cataracts, subluxation of radial heads, unusual face, and sensorineural hearing loss
154
1
Ohdo syndrome: mental retardation, congenital heart disease, blepharophimosis/ptosis, hypoplastic teeth, and hearing loss
154
1
Michels syndrome: blepharophimosis/ptosis, inverse epicanthus, cleft lip--palate, mental retardation, and mixed hearing loss (oculopalatoskeletal syndrome)
155
1
Cryptophthalmos syndrome (Fraser syndrome)
156
2
Ocular albinism and sensorineural hearing loss
158
1
Norrie syndrome (oculoacousticocerebral dysplasia)
158
3
Gernet syndrome: optic atrophy and severe sensorineural hearing loss
161
2
Jensen syndrome: optic atrophy, dementia, and sensorineural hearing loss
163
1
Berk-Tabatznik syndrome: congenital optic atrophy, brachytelephalangy, and sensorineural hearing loss
163
1
Ozden optic atrophy and deafness
164
1
Mohr-Tranebjaerg syndrome (DFNI): X-linked optic atrophy, spastic paraplegia, dystonia, and auditory neuropathy
164
1
Appendix
165
1
Genetic Hearing Loss Associated with Musculoskeletal Disorders
166
101
Robert J. Gorlin
Craniotubular Bone Disorders
166
18
Craniometaphyseal dysplasia
166
2
Craniodiaphyseal dysplasia
168
1
Frontometaphyseal dysplasia
169
2
Progressive diaphyseal dysplasia (Camurati-Engelmann disease)
171
1
Osteopetrosis
172
1
Severe autosomal recessive osteopetrosis (Albers-Schonberg disease)
173
1
Benign autosomal dominant osteopetrosis
174
1
Autosomal recessive osteopetrosis with renal tubular acidosis (carbonic anhydrase II deficiency)
174
1
Dysosteosclerosis
175
2
Sclerosteosis
177
1
van Buchem disease
178
2
Hyperphosphatasemia
180
1
Oculodentoosseous dysplasia (oculodentodigital syndrome)
181
2
Osteopathia striata with cranial sclerosis
183
1
Chondrodysplasias
184
7
Achondroplasia
184
2
Campomelic syndrome
186
2
Spondyloepiphyseal dysplasia congenita
188
1
Kniest dysplasia (metatropic dysplasia, type II)
189
2
Other Chondrodysplasias
191
1
Metaphyseal chondrodysplasia, type Rimoin-McAlister
191
1
Chondrodysplasia, type Temtamy
192
1
Chondrodysplasia, type Khaldi
192
1
Craniosynostoses
192
11
Apert syndrome
192
3
Crouzon syndrome (craniofacial dysostosis)
195
2
Pfeiffer syndrome
197
2
Saethre-Chotzen syndrome
199
1
Chemotactic defect, craniosynostosis, short stature, and sensorineural hearing loss (Thong syndrome)
200
1
Auralcephalosyndactyly
201
1
Acrocephaly, limb anomalies, short stature, ear malformations with preauricular pits, and mixed hearing loss (acro-cranio-facial dysostosis)
201
1
Aural-digital-anal syndrome
202
1
Fryns craniosynostosis syndrome
202
1
Gorlin Chaudhry-Moss syndrome
202
1
Hersh craniosynostosis syndrome
203
1
Acral-Orofacial Syndromes
203
9
Oral-facial-digital syndrome, type I
203
2
Oral-facial-digital syndrome, type IV (Baraitser-Burn syndrome)
205
1
Oral-facial-digital syndrome, type VI (Varadi syndrome)
206
1
Otopalatodigital syndrome, type I
207
1
Otopalatodigital syndrome, type II
208
1
EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting syndrome)
209
3
Split hand/split foot with sensorineural deafness
212
1
Glossopalatine fusion, micrognathia, digital anomalies, stenotic ear canals, and conductive hearing loss
212
1
Other Skeletal Disorders
212
27
The osteogenesis imperfectas
212
3
Paget disease of bone (osteitis deformans)
215
2
Familial expansile osteolysis
217
2
Fibrodysplasia ossificans progressiva
219
1
Stickler syndromes (hereditary arthroophthalmopathy)
220
2
Myopia, congenital and juvenile cataracts, saddle nose, and sensorineural hearing loss (Marshall syndrome)
222
1
Short stature, low nasal bridge, cleft palate, and sensorineural hearing loss (OSMED, oto-spondylo-megaepiphyseal dysplasia)
223
2
Hajdu-Cheney syndrome (acroosteolysis, type VI)
225
2
Hemifacial microsomia, external auditory canal atresia, deafness, Mullerian anomalies, and acro-osteolysis
227
1
Keutel syndrome (calcification of cartilages, brachytelephalangy, multiple peripheral pulmonary stenoses, and mixed hearing loss)
227
2
Proximal symphalangism and conductive hearing loss
229
2
Facio-audio-symphalangism
231
2
Otofacioosseous-gonadal syndrome
233
1
Facio-auriculo-radial dysplasia
233
1
Hypoplastic thumbs, coloboma of choroid, cataracts, developmental delay, and sensorineural hearing loss
234
1
Duane anomaly, upper limb malformation, and sensorineural hearing loss (Okihiro syndrome)
234
2
Triphalangeal thumbs, Glanzmann thrombasthenia, and sensorineural hearing loss
236
1
Wildervanck syndrome (cervico-oculo-acoustic syndrome, Klippel-Feil anomaly plus)
236
3
Miscellaneous Musculoskeletal Disorders
239
1
Rare Conditions with Hearing Loss
239
21
Tibial agenesis and congenital hearing loss (Carraro syndrome)
239
1
Broad terminal phalanges, abnormal face, and sensorineural hearing loss (Kiepert syndrome, nasodigitoacoustic syndrome)
239
2
Joint fusions, mitral insufficiency, and conductive hearing loss
241
1
Acrofacial dysostosis, type Kelly
241
1
Acrofacial dysostosis, type Reynolds
241
1
Acrofacial dysostosis, type Rodriguez
241
1
Brachydactyly Al, dwarfism, ptosis, microcephaly, mental retardation, and mixed hearing loss
242
1
Brachyphalangy, polydactyly, absent tibiae, dysmorphic pinnae, and hearing loss
242
1
Temtamy preaxial brachydactyly syndrome
242
1
Brachydactyly, type Char, and congenital profound sensorineural hearing loss
242
1
Brachydactyly B, macular colobomas, and severe mixed hearing loss (Sorsby syndrome)
242
1
Van der Woude syndrome with hearing loss and minor limb anomalies
243
1
Brachydactyly, broad first digits, hyperopia, and congenital conductive hearing loss
243
1
Dysplasia of capital femoral epiphyses, severe myopia, and sensorineural hearing loss
244
1
Spondyloepiphyseal dysplasia, myopia, and sensorineural hearing loss
245
1
Multiple epiphyseal dysplasia, myopia, and conductive hearing loss
246
1
Synostosis (metacarpals/metatarsals 4--5), hypospadias, and profound sensorineural hearing loss
246
1
Carpal and tarsal abnormalities, cleft palate, oligodontia, and conductive hearing loss
246
1
Spondylocarpotarsal coalition syndrome with or without unilateral unsegmented bar
247
1
Coarse facial appearance, skeletal dysplasia, and mixed hearing loss
248
1
Lenz-Majewski syndrome
249
1
Cranial hyperostosis and mixed hearing loss
249
2
Grebe-like chondrodysplasia and mixed hearing loss
251
1
Radial hypoplasia, psychomotor retardation, and sensorineural hearing loss
251
1
Nasal bone hypoplasia, hand contractures, and sensorineural hearing loss
252
1
Brachycephaly, cataracts, mental retardation, and sensorineural hearing loss (Fine-Lubinsky syndrome)
253
1
Facial, skeletal, and genital anomalies and sensorineural hearing loss
253
1
Cleft lip and palate, short stature, and sensorineural hearing loss
253
1
Lymphedema--lymphangiectasia--mental retardation (Hennekam) syndrome
253
1
Lymphedema of the lower limbs, hematologie abnormalities, and sensorineural hearing loss
254
1
Skeletal malformations, ptosis, and conductive hearing loss
254
1
Mental and somatic retardation, short clubbed digits, EEG abnormalities, and mixed hearing loss
254
1
Horizontal gaze palsy, scoliosis, and sensorineural hearing loss
255
1
Humero-radio-ulnar synostosis and congenital sensorineural hearing loss
255
1
Osteoma of the middle ear
256
1
Dyschondrosteosis (Madelung's deformity, Leri-Weil disease)
256
1
Cleft lip--palate, mental and somatic retardation, postaxial polydactyly, and sensorineural hearing loss
256
1
Cleft lip and palate, sacral lipomas, misplaced supernumerary digits, and sensorineural hearing loss
256
1
Metaphyseal dysplasia, retinal pigmentary changes, and sensorineural hearing loss
257
1
Mental and somatic retardation, generalized muscular hypertrophy, joint limitation, unusual facial appearance, and mixed hearing loss (Myhre syndrome, GOMBO syndrome)
257
1
Spondyloperipheral dysplasia
257
1
Bowed tibiae, dislocated elbows, scoliosis, microcephaly, cataract, and sensorineural hearing loss
258
1
Rigid mask-like face, ear anomalies, preaxial polydactyly, toe malformations, and mixed hearing loss
258
1
Mullerian dysgenesis, bilateral forearm deformity, spinal stenosis and scoliosis, flat face, and conductive hearing loss
258
1
Histiocytosis, joint contractures, and sensorineural hearing loss
259
1
Caudal appendage, short terminal phalanges, sensorineural hearing loss, cryptorchidism, and mental retardation
259
1
Unusual face, microcephaly, joint laxity, and conductive hearing loss
260
7
Macrocephaly, hypertelorism, short limbs, developmental delay, and conductive hearing loss
260
1
Common Syndromes with Occasional Hearing Loss
260
1
Cleidocranial dysplasia
260
1
Frontonasal malformation
261
1
Larsen syndrome
261
1
Fanconi pancytopenia syndrome
262
1
Trichorhinophalangeal syndromes
262
1
Coffin-Lowry syndrome
263
1
FG (Opitz-Kaveggia) syndrome (unusual face, mental retardation, congenital hypotonia, and imperforate anus)
264
1
de Lange syndrome
265
1
Short syndrome
265
1
Appendix
266
1
Genetic Hearing Loss Associated with Renal Disorders
267
23
Maria Bitner-Glindzicz
Karen E. Heath
Angel Campos-Barros
Alport syndrome (nephritis and sensorineural hearing loss)
267
5
Nonmuscle myosin heavy chain IIA (MYHIIA) syndrome [macrothrombocytopenia, nephritis, sensorineural deafness, and cataracts (Epstein and Fechtner syndromes and Alport syndrome with macrothrombocytopenia, included)]
272
2
Nephritis, motor and sensory neuropathy (Charcot-Maric-Tooth disease), and sensorineural hearing loss (Lemieux-Neemeh syndrome)
274
1
Nephritis, urticaria, amyloidosis, and sensorineural hearing loss (Muckle-Wells syndrome) (MWS)
275
2
Nephritis, myopathy, corneal crystals, and conductive hearing loss
277
1
Nephritis, anorectal malformations, and sensorineural hearing loss
278
1
Membranous glomerulonephritis and sensorineural hearing loss
278
1
Mesangial IgA nephrophathy, spastic paraplegia, mental retardation, and sensorineural hearing loss (Fitzsimmons syndrome)
279
1
Renal disease, urinary tract and digital anomalies, and conductive hearing loss
279
2
Renal disease, hyperprolinuria, ichthyosis, and sensorineural hearing loss
281
1
Renal failure, severe hypertension, abnormal steroidogenesis, hypogenitalism, and sensorineural hearing loss
282
1
Renal tubular acidosis with progressive sensorineural hearing loss
282
2
Bartter syndrome with sensorineural deafness
284
1
Renal rickets, retinitis pigmentosa, and progressive sensorineural hearing loss
285
1
Renal-coloboma syndrome (renal hypoplasia, ocular coloboma, and high-frequency hearing loss)
285
2
Hirschsprung disease, polydactyly, unilateral renal agenesis, hypertelorism, and congenital sensorineural hearing loss
287
1
Prune belly syndrome with pulmonic stenosis, mental retardation, and sensorineural hearing loss
287
1
Renal, genital, and middle ear anomalies (Winter syndrome)
288
1
Renal failure, cataracts, recurrent infections, and conductive hearing loss
288
1
Bresheck syndrome (Brain anomalies, Retardation of mentality and growth, Ectodermal dysplasia, Skeletal malformations, Hirschprung disease, Ear deformity and deafness, eye hypoplasia, Cleft palate, cryptorchidism, and Kidney dysplasia/hypoplasia)
289
1
Appendix
289
1
Genetic Hearing Loss Associated with Neurologic and Neuromuscular Disorders
290
69
Helga V. Toriello
Neurofibromatosis, type 2 (vestibular schwannomas and sensorineural hearing loss)
290
3
Cockayne syndrome
293
3
Friedreich ataxia and Friedreich-like ataxia syndromes
296
2
Ataxia and sensorineural hearing loss (autosomal recessive) (Lichtenstein-Knorr syndrome)
298
1
Spinocerebellar ataxia with blindness and deafness (SCABD)
298
1
Ataxia and sensorineural hearing loss (autosomal dominant) (Klippel-Durante syndrome)
299
1
Ataxia, amyotrophy of hands, spastic paraplegia, hypogonadism, short stature, and sensorineural hearing loss (Gemignani syndrome)
299
1
Ataxia, cataracts, dementia, and sensorineural hearing loss (Stromgren syndrome)
300
1
Ataxia, motor and sensory neuropathy, mental retardation, cataracts, and sensorineural hearing loss (Begeer syndrome)
300
1
Ataxia, motor and sensory neuropathy, cataracts, myopia, pigmentary retinopathy, skeletal abnormalities, and sensorineural hearing loss (Flynn-Aird syndrome)
301
1
Ataxia, dementia, myocardial fibrosis, and sensorineural hearing loss (Jeune-Tommasi syndrome)
302
1
Ataxia, optic atrophy, esotropia, dysphagia, and sensorineural hearing loss with episodic worsening (Schmidley syndrome)
302
1
Fatal X-linked ataxia with deafness and loss of vision (Arts syndrome)
303
1
Ataxia, hypogonadotrophic hypogonadism, mental retardation, and sensorineural hearing loss (Richards-Rundle syndrome)
304
1
Cerebellar ataxia and hypergonadotropic hypogonadism (Amor syndrome)
305
1
Ataxia, mental retardation, motor and sensory neuropathy, spastic diplegia, and sensorineural hearing loss (Berman syndrome)
306
1
Olivopontocerebellar atrophy and deafness (Pratap-Chand syndrome)
306
1
Ataxia, optic atrophy, and sensorineural hearing loss (autosomal recessive) (Dobyns syndrome)
307
1
Ataxia, optic atrophy, and sensorineural hearing loss (autosomal dominant) (Sylvester syndrome)
307
1
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS)
308
1
Cerebellar ataxia, deafness, and narcolepsy
308
1
Optico-cochleo-dentate degeneration (Muller-Zeman syndrome)
309
1
Ataxia, pigmentary retinopathy, and sensorineural hearing loss (Hallgren syndrome)
310
1
Ataxia, mental retardation, and sensorineural hearing loss (Reardon syndrome)
310
1
IOSCA: Infantile-onset spinocerebellar ataxia (formerly OHAHA and SCA8)
311
1
Spastic paraplegia, hypogonadism, and sensorineural hearing loss (Wells-Jankovic syndrome)
311
1
Spastic paraplegia, syndactyly, and sensorineural hearing loss (Opjordsmoen-Nyberg-Hansen syndrome)
312
1
Spastic quadriparesis, dementia/mental retardation, optic atrophy, pigmentary retinopathy, and sensorineural hearing loss (Gordon syndrome)
312
1
Chorea and sensorineural hearing loss
313
1
Choreoathetosis, mental retardation, microcephaly, spastic quadriplegia, strabismus, and sensorineural hearing loss (Schimke-Horton syndrome)
314
1
Dystonia and sensorineural hearing loss (Scribanu-Kennedy syndrome)
314
2
Progressive myoclonus epilepsy, ataxia, and sensorineural hearing loss (May-White syndrome)
316
1
Progressive myoclonus epilepsy, dementia, and sensorineural hearing loss (Latham-Munro syndrome)
317
1
Myoclonic epilepsy, congenital hearing loss, macular dystrophy, and psychiatric disorders (Megarbane syndrome)
317
1
Dystonia, pigmentary retinopathy, and sensorineural hearing loss (Coppeto-Lessell syndrome)
317
1
Late infantile neuroaxonal dystrophy (Seitelberger disease)
318
1
Congenital neuroaxonal dystrophy with peripheral gangrene
319
1
Meningitic migraine, rash, arthropathy, chorioretinitis, and sensorineural hearing loss (Campbell-Clifton syndrome)
319
1
Navajo brain stem syndrome
320
1
N syndrome (mental retardation, multiple congenital anomalies, growth deficiency, spastic quadriplegia, blindness, risk for neoplasia, increased chromosomal breakage, and sensorineural hearing loss) (Hess-Opitz syndrome)
320
2
Holoprosencephaly, myelomengingocele, abducens paralysis, and sensorineural hearing loss
322
1
Chudley-McCullough syndrome
322
1
Microcephaly, dysmorphic facial phenotype, mental retardation, cleft palate, weight deficiency, skeletal abnormalities, and hearing loss (Weaver-Williams syndrome)
323
1
Microcephaly, mental retardation, epilepsy, spastic paraplegia, and sensorineural hearing loss (Renier syndrome)
324
1
Microcephaly, mental retardation, spastic diplegia or quadriplegia, persistent hyperplastic primary vitreous, microphthalmia, cleft palate, asthma, and conductive hearing loss (oculo-palato-cerebral dwarfism)
324
1
X-linked mental retardation, microcephaly, unusual face, and sensorineural hearing loss (Golabi-Ito-Hall syndrome)
325
1
X-linked mental and somatic retardation, genital hypoplasia, and sensorineural hearing loss (Juberg-Marsidi syndrome)
325
1
Optic atrophy, mental retardation, seizures, spasticity, restricted joint mobility, and sensorineural hearing loss (Gustavson syndrome)
326
1
Mental retardation, behavior disturbance, and sensorineural hearing loss
326
1
X-linked mental retardation with characteristic facial features and hearing loss (Martin syndrome)
326
1
Neuromuscular Disorders with Hearing Loss
326
2
Anterior Horn Cell and Miscellaneous Neuromuscular Disorders
328
2
Pontobulbar palsy and sensorineural hearing loss (Brown-Vialetto-Van Laere syndrome)
328
1
Spinal muscular atrophy, cardiac conduction disorder, cataracts, hypogonadism, and sensorineural hearing loss (Nathalie syndrome)
329
1
Arthrogrypotic hand abnormality and sensorineural hearing loss (Stewart-Bergstrom syndrome)
329
1
Motor and Sensory Neuropathies with Hearing Loss
330
10
Motor neuropathy, vocal cord paralysis, and sensorineural hearing loss (Boltshauser syndrome)
330
1
Charcot-Marie-Tooth hereditary neuropathies [hereditary motor and sensory neuropathies (HMSN)]
331
1
Autosomal dominant Charcot-Marie-Tooth (AD HMSN) with hearing loss
331
1
Neuropathy and sensorineural hearing loss, autosomal dominant
332
1
Hereditary motor and sensory neuropathy Lom (CMT4D)
332
1
Motor and sensory neuropathy with sensorineural hearing loss, Bouldin type
333
1
Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of large myelinated fibers
333
1
X-linked Charcot-Marie-Tooth disease
333
1
Motor and sensory neuropathy and sensorineural hearing loss (X-linked) (Cowchock syndrome, X-L recessive Charcot-Marie-Tooth syndrome)
334
1
Motor and sensory neuropathy, optic atrophy, and sensorineural hearing loss (autosomal dominant) (Hagemoser syndrome)
334
1
Motor and sensory neuropathy, pigmentary retinopathy, and sensorineural hearing loss (Pauli syndrome)
335
1
Motor and sensory neuropathy, trigeminal neuralgia, and sensorineural hearing loss (Cruse syndrome)
335
1
Peripheral neuropathy, intestinal pseudo-obstruction, and deafness
336
1
Motor and sensory neuropathy, optic atrophy, and sensorineural hearing loss (autosomal recessive) (Iwashita syndrome)
336
1
Hearing loss, optic atrophy, and ataxia (Jequier-Deonna syndrome)
337
1
Motor and sensory neuropathy, adrenocortical deficiency, hepatosplenomegaly, optic atrophy, pigmentary retinopathy, and sensorineural hearing loss (Dyck syndrome)
337
1
Motor and sensory neuropathy (polyneuropathy), ophthalmoplegia, leukoencephalopathy, intestinal pseudo-obstruction, and sensorineural hearing loss (POLIP syndrome)
338
1
Motor and sensory neuropathy, optic atrophy, and sensorineural hearing loss (X-linked) (Rosenberg-Chutorian syndrome)
339
1
Sensory and Autonomic Neuropathies with Hearing Loss
340
3
Hereditary sensory and autonomic neuropathy (HSAN), dementia, and sensorineural hearing loss (Hicks syndrome)
340
1
Sensory and autonomic neuropathy, ataxia, scoliosis, and sensorineural hearing loss (Robinson syndrome)
341
1
Sensory and autonomic neuropathy, gastrointestinal motility disorder, small bowel diverticulitis, and sensorineural hearing loss (Groll-Hirschowitz syndrome)
342
1
Muscular Dystrophies
343
5
Facioscapulohumeral muscular dystrophy and sensorineural hearing loss
343
2
Myotonic dystrophy
345
2
Oculopharyngeal muscular dystrophy
347
1
Scapuloperoneal syndrome
348
1
Established Mitochondrial Syndromes with Hearing Loss
348
8
Kearns-Sayre syndrome (ophthalmoplegia plus)
348
3
Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes, and sensorineural hearing loss (MELAS)
351
2
Mitochondrial encephalomyopathy, myoclonus epilepsy, ragged-red fibers, and sensorineural hearing loss (MERRF)
353
1
Mitochondrial encephalomyopathy, ataxia, peripheral neuropathy, progressive myoclonus epilepsy, pigmentary retinopathy, cardiomyopathy, and sensorineural hearing loss (Borud syndrome)
354
1
Mitochondrial encephalomyopathy, progressive myoclonus epilepsy, ataxia, dementia, diabetes mellitus, nephropathy, and sensorineural hearing loss (Herrmann syndrome)
354
1
Renal tubulopathy, diabetes mellitus, and cerebellar ataxia
355
1
Disorders with Mitochondrial Involvement, but Autosomal Inheritance
356
3
Mitochondrial encephalomyopathy, ataxia, amyotrophy, progressive myoclonus epilepsy, bone marrow hypoplasia, nephropathy, thyroid dysfunction, and sensorineural hearing loss (Cutler syndrome)
356
1
Mitochondrial encephalomyopathy, ataxia, ophthalmoplegia, ptosis, optic atrophy, and sensorineural hearing loss (Treft syndrome)
357
1
Mitochondrial encephalomyopathy, gastrointestinal disease, motor and sensory neuropathy, ophthalmoplegia, and sensorineural hearing loss (MNGIE syndrome)
357
1
Atherosclerosis, deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease (Feigenbaum syndrome)
358
1
Appendix
358
1
Genetic Hearing Loss Associated with Cardiac Defects
359
7
Angela E. Lin
Holly H. Ardinger
Long-QT syndrome (LQTS) with deafness (Jervell and Lange-Niclsen syndrome, cardioauditory syndrome, surdocardiac syndrome)
359
2
DiGeorge sequence
361
1
Kabuki (Nikawa-Kuroki) syndrome
362
1
Noonan syndrome
363
1
Choanal atresia, unusual face, cardiovascular malformations, and sensorineural hearing loss (Burn-McKeown syndrome)
363
1
Deafness, congenital heart defects, and posterior embryotoxon
364
1
Hypertrophic cardiomyopathy and congenital deaf-mutism (Csanady syndrome)
364
1
Familial bilateral blepharoptosis and left-sided obstructive cardiovascular malformations with deafness (Cornel syndrome, Bazopoulou-Kyrkanidou syndrome)
364
1
Cardiovascular malformations and deaf-mutism (Koroxenidis syndrome)
364
1
Brachymesophalangy, hyperphalangy, cardiovascular malformation, and deafness (Camera-Costa syndrome)
364
1
Appendix
365
1
Genetic Hearing Loss Associated with Endocrine Disorders
366
21
William Reardon
Diabetes insipidus, diabetes mellitus, optic atrophy, and sensorineural hearing loss (DIDMOAD syndrome, Wolfram syndrome)
366
3
Diabetes mellitus, thiamine-responsive megaloblastic anemia, and sensorineural hearing loss
369
1
Maternally-transmitted diabetes mellitus and hearing loss
369
1
Lipodystrophic diabetes and conductive hearing loss (Seip-Berardinelli syndrome)
370
2
Goiter and profound congenital sensorineural hearing loss (Pendred syndrome)
372
3
Johanson-Blizzard syndrome
375
2
Lingual thyroid and sensorineural hearing loss
377
1
Congenital absence of thyroid and sensorineural hearing loss
377
1
Generalized resistance to thyroid hormone (GRTH) and sensorineural hearing loss
377
2
Sensorineural hearing loss associated with iodine deficiency and/or congenital hypothyroidism
379
1
Hypoparathyroidism, deafness, and renal disease (HDR syndrome)
379
1
Hyperparathyroidism, nephropathy, and sensorineural hearing loss
380
1
Pseudohypoparathyroidism and sensorineural hearing loss
380
1
Hypopituitary dwarfism and sensorineural hearing loss (Winkelmann syndrome)
381
1
Prenatal dwarfism, elevated growth hormone levels, mental retardation, and congenital hearing loss
381
1
Hypogonadotrophic hypogonadism, anosmia, and sensorineural hearing loss (Kallmann syndrome)
382
1
Autosomal recessive ovarian dysgenesis and congenital sensorineural hearing loss (Perrault syndrome)
383
1
Hypogonadism and severe congenital mixed hearing loss
384
1
Congenital adrenal hypoplasia, gonadotrophin deficiency, and progressive high-frequency sensorineural hearing loss
385
1
Unusual face, cleft palate, pseudohermaphroditism, mental retardation, and conductive hearing loss
386
1
Appendix
386
1
Genetic Hearing Loss Associated with Metabolic Disorders
387
20
Michael L. Netzloff
Sarah H. Elsea
Rachel A. Fisher
Mucopolysaccaridoses
387
5
MPS-IH (Hurler syndrome)
387
1
MPS-IS (Scheie syndrome)
387
1
MPS-IH/S (Hurler-Scheie syndrome)
387
1
MPS II (Hunter syndrome)
387
2
MPS III (Sanfilippo syndrome)
389
1
MPS IVA and MPS IVB (Morquio syndrome)
389
1
MPS VI (Maroteaux-Lamy syndrome)
389
1
MPS VII (Sly syndrome)
389
1
MPS IX (hyaluronidase deficiency)
389
1
All forms of mucopolysaccharidoses
389
3
Oligosaccharidoses, Gangliosidoses, and Lipidoses
392
5
α-Mannosidosis
392
1
β-Mannosidosis
393
1
Aspartylglucosaminuria [aspartylglucosaminidase (AGA) deficiency]
394
1
Sialidosis (neuramindase I deficiency mucolipidosis I; sialidase I deficiency)
395
1
Fabry disease (a-galactosidase A deficiency)
396
1
Gaucher-like disease (glucosylceramide-β-glucosidase deficiency, pseudo-Gaucher disease)
396
1
Neuraminidase deficiency with β-galactosidase deficiency (Goldberg syndrome, galactosialidosis)
396
1
Multiple sulfatase deficiency (mucosulfatidosis)
397
1
Gangliosidoses
397
2
GM1 gangliosidosis
397
1
Tay-Sachs disease (type I GM2 gangliosidosis)
398
1
Krabbe disease (globoid cell leukodystrophy)
399
1
Lipidoses
399
1
Niemann-Pick type C disease
399
1
Peroxisomal Disorders
399
1
Fatty Acid Disorders
400
1
Triglyceride storage disease with impaired long-chain fatty acid oxidation (neutral lipid storage disease, Chanarin-Dorfman syndrome)
400
1
Organic Acid and Amino Acid Disorders
401
2
Biotinidase deficiency (late-onset multiple carboxylase deficiency)
401
1
Canavan disease (N-acetylaspartic aciduria)
402
1
3-Methylglutaconic aciduria
402
1
Histidinuria
403
1
Other Disorders
403
4
X-linked hypophosphatemia-(familial hypophosphatemic rickets or osteomalacia, vitamin D--resistant rickets or osteomalacia)
403
1
Phosphoribosylpyrophosphate synthetase superactivity (ataxia and sensorineural hearing loss with hyperuricemia)
404
2
Appendix
406
1
Genetic Hearing Loss Associated with Integumentary Disorders
407
49
Helga V. Toriello
Waardenburg syndrome
407
5
Forelocks, backlocks, and sensorineural hearing loss
412
1
X-linked pigmentary abnormalities and congenital sensorineural hearing loss (Ziprkowski-Margolis syndrome)
413
2
White hair, joint contractures, defective chemotaxis, and sensorineural hearing loss (Davenport syndrome)
415
1
Autosomal dominant piebaldism and sensorineural hearing loss (Telfer syndrome)
415
2
Autosomal recessive piebaldism and congenital sensorineural hearing loss (Woolf syndrome)
417
1
Linear band hyperpigmentation, congenital heart anomalies, and moderate conductive hearing loss
418
1
Oculocutaneous albinism and congenital sensorineural hearing loss, autosomal dominant (Tietz-Smith syndrome)
418
1
Oculocutaneous albinism and congenital sensorineural hearing loss, autosomal recessive
418
1
BADS and similar phenotypes
419
1
Yemenite-type hypopigmentation, blindness, and sensorineural hearing loss
420
1
Universal dyschromatosis, small stature, and sensorineural hearing loss
421
1
Recessive vitiligo and sensorineural hearing loss
421
1
Hypopigmentation, muscle wasting, achalasia, and congenital sensorineural hearing loss
421
1
Congenital myopathy, secretory diarrhea, bullous skin eruption, microcephaly, and deafness (Levy-Chung syndrome)
422
1
Multiple lentigines (LEOPARD) syndrome
423
2
Multiple pigmented nevi and sensorineural hearing loss
425
1
Scant hair, camptodactyly, and sensorineural hearing loss
426
1
Rapp-Hodgkin syndrome
426
1
Hay-Wells syndrome (AEC syndrome)
426
1
Tsakalakos ectodermal dysplasia and sensorineural hearing loss
426
1
Tricho-odonto-onychial dysplasia
427
1
Keratitis-ichthyosis-deafness (KID) syndrome
427
3
Congenital ichthyosiform dermatosis, mental retardation dysmorphic appearance, retinal colobomas, and conductive hearing loss (CHIME syndrome)
430
1
Congenital ichthyosiform erythroderma, hepatomegaly, and congenital sensorineural hearing loss (Desmons syndrome)
430
1
Generalized spiny hyperkeratosis, universal alopecia, and congenital sensorineural hearing loss
431
1
Ichthyosis, hystrix-like, with deafness (HID)
431
2
Keratopachydermia, digital constrictions, and sensorineural hearing loss (Vohwinkel-Nockemann syndrome)
433
1
Palmoplantar hyperkeratosis and sensorineural hearing loss
434
1
Palmoplantar hyperkeratosis, leukonychia, and sensorineural hearing loss
435
1
Palmoplantar hyperkeratosis, short stature, unusual facial appearance, hypodontia, and sensorineural hearing loss
435
1
Mutilating keratopachydermia, hypotrichosis, acrodermatitis enteropathica--like lesions, and sensorineural hearing loss (Olmsted syndrome)
436
1
Knuckle pads, leukonychia, and mixed hearing loss (Schwann syndrome, Bart-Pumphrey syndrome)
436
2
Hyperkeratosis palmoplantaris striata, pili torti, hypohidrosis, oligodontia, and sensorineural hearing loss
438
1
Pili torti and sensorineural hearing loss (Bjornstad syndrome)
439
1
Alopecia, hypogonadism, anosmia, malformed pinnae, and conductive hearing loss (Johnson-McMillin syndrome)
440
1
Alopecia, hypogonadism, diabetes mellitus, mental retardation, ECG abnormalities, and sensorineural hearing loss (Woodhouse-Sakati syndrome)
441
1
Generalized alopecia, hypogonadism, and sensorineural hearing loss (Crandall syndrome)
442
1
Congenital alopecia, mental retardation, and sensorineural hearing loss
443
1
DOOR (deafness, onycho-osteodystrophy, retardation) syndrome
443
2
Dominant onychodystrophy, triphalangeal thumbs, and congenital sensorineural hearing loss (Goodman-Moghadam syndrome)
445
1
Dominant onychodystrophy, type B brachydactyly, and ectrodactyly
445
1
Dominant onychodystrophy, coniform teeth, and sensorineural hearing loss (Robinson syndrome)
446
1
Atopic dermatitis and sensorineural hearing loss
447
1
Hidrotic ectodermal dysplasia, Halal type
448
1
Xeroderma pigmentosum
448
1
Premature aging, microcephaly, unusual face, multiple nevi, and sensorineural hearing loss (Shepard-Elliot-Mulvihill syndrome)
448
2
Anhidrosis and progressive sensorineural hearing loss (Helweg-Larsen and Ludvigsen syndrome)
450
1
Cylindromatosis
451
1
Symmetrical lipomatosis and sensorineural hearing loss
451
1
Aplasia cutis-ear malformations
451
1
Focal dermal hypoplasia (Goltz-Gorlin syndrome)
451
1
Ruzicka syndrome
452
1
Epidermolysis bullosa, type Nielsen-Sjolund
452
1
Hairy ears and Y-linked sensorineural hearing loss
453
1
Histiocytic dermatoarthritis
453
1
Elastic connective tissue nevi osteopoikilosis, and conductive hearing loss (Buschke-Ollendorff syndrome)
453
1
IBIDS syndrome
453
1
Coarse face, mental retardation, skin granulomata, and profound congenital sensorineural hearing loss (Fountain syndrome)
453
1
Growth retardation, mental retardation, microcephaly, seizures, dermatosis, and sensorineural hearing loss
454
1
Kassutto syndrome
454
1
Finucane hearing loss--hypopigmentation--skeletal defects syndrome
455
1
Radial aplasia, hyperkeratosis, enterocolitis
455
1
Appendix
455
1
Genetic Hearing Loss Associated with Oral and Dental Disorders
456
6
Robert J. Gorlin
Otodental syndrome
456
1
Amelogenesis imperfecta, leukonychia, and sensorineural hearing loss
456
1
Multiple anterior dens invaginatus and sensorineural hearing loss
457
1
Natal teeth, bifid tongue, and profound sensorineural hearing loss
458
1
Oligodontia and congenital sensorineural hearing loss
458
1
Compound odontomas, maxillary hypoplasia, rectal stenosis, and sensorineural hearing loss
459
1
Hypodontia and peg-shaped teeth, olivopontocerebellar dysplasia, hypogonadism, and hearing loss
459
1
Gingival fibromatosis and sensorineural hearing loss
459
1
Neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia
460
1
Unusual face, digital anomalies, and supernumerary teeth
460
1
Unusual face and autosomal dominant hypohidrotic ectodermal dysplasia (Bocian-Rimoin syndrome)
460
1
Sensorineural hearing loss, retinal pigment epithelium lesions, and discolored teeth
460
1
Appendix
461
1
Genetic Hearing Loss Associated with Chromosome Disorders
462
15
Anne B. S. Giersch
Cynthia Morton
Cytogenic Disorders due to Aneuploidy
462
7
Down syndrome (trisomy 21)
462
3
Trisomy 13 (Patau syndrome)
465
1
Trisomy 18 (Edwards syndrome)
465
2
Turner syndrome
467
1
Klinefelter syndrome (XXY syndrome)
468
1
Unbalanced 11/22 translocation
468
1
Cytogenetic Deletion Syndromes and Hearing Loss
469
8
Monosomy 1p syndrome
469
1
Wolf-Hirschhorn syndrome (4p -- syndrome)
470
1
Smith-Magenis syndrome
471
1
Dell 8p (18 p--) syndrome
472
1
Del18q (18q--) syndrome
473
1
Deletion 22q11 spectrum (velocardiofacial syndrome, Shprintzen syndrome, DiGeorge complex, conotruncal anomaly face syndrome, Cayler asymmetric crying facies syndrome)
474
1
Other cytogenetic rearrangements and hearing loss syndromes
475
1
Unique cases
475
1
Use of cytogenetics to identify hearing loss genes
476
1
Index
477