Ear, nose, and throat

The structures of the ear, nose, and throat are complex and interrelated. They allow a person to make sound, hear, maintain balance, smell, breathe, and swallow. Several genetic conditions can occur when the genes controlling the construction or operation of these structures do not function normally.

• ALMS see Alström syndrome
• Alport syndrome
• Alström syndrome
• anal-ear-renal-radial malformation syndrome see Townes-Brocks Syndrome
• angiomatosis retinae see von Hippel-Lindau syndrome
• Arts syndrome
• asymmetric hypoplasia of facial structures see craniofacial microsomia
• ataxia-deafness-optic atrophy, lethal see Arts syndrome
• ataxia, fatal X-linked, with deafness and loss of vision see Arts syndrome
• auditory vertigo see Ménière disease
• aural vertigo see Ménière disease
• auriculobranchiogenic dysplasia see craniofacial microsomia
• autosomal dominant MYH9 spectrum disorders see MYH9-related disorder
• Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
• Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome
• Ballinger-Wallace syndrome see maternally inherited diabetes and deafness
• BANF see neurofibromatosis type 2
• Bart-Pumphrey syndrome
• BDLS see Cornelia de Lange syndrome
• Beals-Hecht syndrome see congenital contractural arachnodactyly
• Beals syndrome see congenital contractural arachnodactyly
• 17β-hydroxysteroid dehydrogenase type 10 deficiency
• beta-glucuronidase deficiency see mucopolysaccharidosis type VII
• Bilateral Acoustic Neurofibromatosis see neurofibromatosis type 2
• BOR see branchiootorenal syndrome
• Brachmann-De Lange Syndrome see Cornelia de Lange syndrome
• Branchio-Oto-Renal Syndrome see branchiootorenal syndrome
• Branchio-Otorenal Dysplasia see branchiootorenal syndrome
• Branchio-Otorenal Syndrome see branchiootorenal syndrome
• branchiootorenal syndrome
• Brittle bone disease see osteogenesis imperfecta
• Camurati-Engelmann disease
• Cardio-auditory-syncope syndrome see Jervell and Lange-Nielsen syndrome
• cardio-cutaneous syndrome see multiple lentigines syndrome
• Cardioauditory syndrome of Jervell and Lange-Nielsen see Jervell and Lange-Nielsen syndrome
• CATCH22 see 22q11.2 deletion syndrome
• Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
• CCA see congenital contractural arachnodactyly
• CDHS see craniofacial-deafness-hand syndrome
• CDLS see Cornelia de Lange syndrome
• CED see Camurati-Engelmann disease
• Central Neurofibromatosis see neurofibromatosis type 2
• cerebelloretinal angiomatosis, familial see von Hippel-Lindau syndrome
• Cerebral gigantism see Sotos syndrome
• CFM see craniofacial microsomia
• CHARGE syndrome
• Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia
• chromosome 15q15.3 deletion syndrome see sensorineural deafness and male infertility
• congenital contractural arachnodactyly
• congenital deafness with keratopachydermia and constrictions of fingers and toes see Vohwinkel syndrome
• congenital deafness with labyrinthine aplasia, microtia, and microdontia
• congenital hereditary hematuria see Alport syndrome
• congenital plasminogen deficiency
• Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
• contractural arachnodactyly, congenital see congenital contractural arachnodactyly
• Cornelia de Lange syndrome
• craniofacial-deafness-hand syndrome
• craniofacial microsomia
• DBS see Donnai-Barrow syndrome
• De Lange Syndrome see Cornelia de Lange syndrome
• deafness-dystonia-optic neuronopathy syndrome
• Deafness-dystonia syndrome see deafness-dystonia-optic neuronopathy syndrome
• deafness-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks Syndrome
• deafness-infertility syndrome see sensorineural deafness and male infertility
• Deafness-retinitis pigmentosa syndrome see Usher syndrome
• Deafness with goiter see Pendred syndrome
• deafness with LAMM see congenital deafness with labyrinthine aplasia, microtia, and microdontia
• 3H2MBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 22q11.2 deletion syndrome
• Der(22) syndrome due to 3:1 meiotic disjunction events see Emanuel syndrome
• diabetes insipidus and mellitus with optic atrophy and deafness see Wolfram syndrome
• diabetes insipidus, diabetes mellitus, optic atrophy, and deafness see Wolfram syndrome
• diabetes mellitus, type II, with deafness see maternally inherited diabetes and deafness
• diaphragmatic hernia-exomphalos-corpus callosum agenesis see Donnai-Barrow syndrome
• Diaphragmatic hernia-exomphalos-hypertelorism syndrome see Donnai-Barrow syndrome
• Diaphyseal Dysplasia, Progressive see Camurati-Engelmann disease
• diaphyseal hyperostosis see Camurati-Engelmann disease
• DIDMOAD see Wolfram syndrome
• diffuse lentiginosis see multiple lentigines syndrome
• DiGeorge Syndrome see 22q11.2 deletion syndrome
• DIS see sensorineural deafness and male infertility
• distal myopathy 2
• DNMT1-related dementia, deafness, and sensory neuropathy see hereditary sensory and autonomic neuropathy type IE
• Donnai-Barrow syndrome
• DRRS see Duane-radial ray syndrome
• Duane-radial ray syndrome
• dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome
• Emanuel syndrome
• Engelmann's Disease see Camurati-Engelmann disease
• facioauriculovertebral dysplasia see craniofacial microsomia
• faciooculoacousticorenal syndrome see Donnai-Barrow syndrome
• Familial Acoustic Neuromas see neurofibromatosis type 2
• FAV see craniofacial microsomia
• first and second branchial arch syndrome see craniofacial microsomia
• first and second pharyngeal arch syndromes see craniofacial microsomia
• FOAR syndrome see Donnai-Barrow syndrome
• Fragilitas ossium see osteogenesis imperfecta
• Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome
• Goiter-deafness syndrome see Pendred syndrome
• Goldenhar-Gorlin syndrome see craniofacial microsomia
• Goldenhar syndrome see craniofacial microsomia
• gout, PRPS-related see phosphoribosylpyrophosphate synthetase superactivity
• Graefe-Usher syndrome see Usher syndrome
• GUSB deficiency see mucopolysaccharidosis type VII
• Hall-Hittner syndrome see CHARGE syndrome
• Hallgren syndrome see Usher syndrome
• hematuria-nephropathy-deafness syndrome see Alport syndrome
• hematuric hereditary nephritis see Alport syndrome
• hemifacial microsomia see craniofacial microsomia
• hemorrhagic familial nephritis see Alport syndrome
• hemorrhagic hereditary nephritis see Alport syndrome
• hereditary arthro-ophthalmo-dystrophy see Stickler syndrome
• hereditary arthro-ophthalmopathy see Stickler syndrome
• hereditary familial congenital hemorrhagic nephritis see Alport syndrome
• hereditary hematuria syndrome see Alport syndrome
• hereditary interstitial pyelonephritis see Alport syndrome
• Hereditary nephritis see Alport syndrome
• hereditary sensory and autonomic neuropathy type IE
• Heterozygous OSMED see Weissenbacher-Zweymüller syndrome
• Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome
• HFM see craniofacial microsomia
• HID syndrome see hystrix-like ichthyosis with deafness
• Hippel-Lindau disease see von Hippel-Lindau syndrome
• HSD10 deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• HSN IE see hereditary sensory and autonomic neuropathy type IE
• HSNIE see hereditary sensory and autonomic neuropathy type IE
• 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• hydroxyacyl-CoA dehydrogenase II deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• hyperostosis corticalis generalisata see SOST-related sclerosing bone dysplasia
• hyperotosis corticalis generalisata familiaris see SOST-related sclerosing bone dysplasia
• hyperphosphatasemia tarda see SOST-related sclerosing bone dysplasia
• hypoplasminogenemia see congenital plasminogen deficiency
• hystrix-like ichthyosis with deafness
• ichthyosiform erythroderma, corneal involvement, and deafness see keratitis-ichthyosis-deafness syndrome
• imperforate anus-hand and foot anomalies syndrome see Townes-Brocks Syndrome
• Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia
• isochromosome 12p syndrome see Pallister-Killian mosaic syndrome
• Isolated deafness see nonsyndromic deafness
• Jervell and Lange-Nielsen syndrome
• JLNS see Jervell and Lange-Nielsen syndrome
• keratitis, ichthyosis, and deafness see keratitis-ichthyosis-deafness syndrome
• keratitis-ichthyosis-deafness syndrome
• keratoderma hereditarium mutilans see Vohwinkel syndrome
• KHM see Vohwinkel syndrome
• KID syndrome see keratitis-ichthyosis-deafness syndrome
• Kniest dysplasia
• knuckle pads, leukonychia, and sensorineural deafness see Bart-Pumphrey syndrome
• LAMM syndrome see congenital deafness with labyrinthine aplasia, microtia, and microdontia
• lateral facial dysplasia see craniofacial microsomia
• lentiginosis profusa see multiple lentigines syndrome
• LEOPARD syndrome see multiple lentigines syndrome
• 2M3HBA see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome
• maternally inherited diabetes and deafness
• matrin 3 distal myopathy see distal myopathy 2
• Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia
• Melnick-Fraser syndrome see branchiootorenal syndrome
• Ménière disease
• Metatropic dwarfism, type II see Kniest dysplasia
• Metatropic dysplasia type II see Kniest dysplasia
• 2-methyl-3-hydroxybutyric aciduria see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• MHBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• MIDD see maternally inherited diabetes and deafness
• mitochondrial inherited diabetes and deafness see maternally inherited diabetes and deafness
• Mohr-Tranebjærg syndrome see deafness-dystonia-optic neuronopathy syndrome
• Moynahan syndrome see multiple lentigines syndrome
• MPD2 see distal myopathy 2
• MPS VII see mucopolysaccharidosis type VII
• MPS7 see mucopolysaccharidosis type VII
• Muckle-Wells syndrome
• mucopolysaccharidosis type VII
• multiple lentigines syndrome
• Muscular Dystrophy, Oculopharyngeal see oculopharyngeal muscular dystrophy
• mutilating keratoderma see Vohwinkel syndrome
• MWS see Muckle-Wells syndrome
• MYH9-related disorder
• MYH9RD see MYH9-related disorder
• myopathia distalis type 2 see distal myopathy 2
• Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia
• Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia
• neurofibromatosis type 2
• NF2 see neurofibromatosis type 2
• NIDDM with deafness see maternally inherited diabetes and deafness
• noninsulin-dependent diabetes mellitus with deafness see maternally inherited diabetes and deafness
• nonsyndromic deafness
• Noonan syndrome with multiple lentigines see multiple lentigines syndrome
• OAV complex see craniofacial microsomia
• OAVS see craniofacial microsomia
• oculoauriculovertebral spectrum see craniofacial microsomia
• oculopharyngeal muscular dystrophy
• OI see osteogenesis imperfecta
• Okihiro syndrome see Duane-radial ray syndrome
• OPMD see oculopharyngeal muscular dystrophy
• oral-mandibular-auricular syndrome see craniofacial microsomia
• OSMED see otospondylomegaepiphyseal dysplasia
• osteogenesis imperfecta
• Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia
• otogenic vertigo see Ménière disease
• otomandibular dysostosis see craniofacial microsomia
• otospondylomegaepiphyseal dysplasia
• Pallister-Killian mosaic syndrome
• palmoplantar keratoderma mutilans see Vohwinkel syndrome
• palmoplantar keratoderma with deafness
• PDD see Camurati-Engelmann disease
• Pendred syndrome
• phosphoribosylpyrophosphate synthetase superactivity
• Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome
• PKS see Pallister-Killian mosaic syndrome
• PPK-deafness syndrome see palmoplantar keratoderma with deafness
• PPK mutilans Vohwinkel see Vohwinkel syndrome
• PPK with deafness see palmoplantar keratoderma with deafness
• progressive cardiomyopathic lentiginosis see multiple lentigines syndrome
• Progressive muscular dystrophy, oculopharyngeal type see oculopharyngeal muscular dystrophy
• PRPP synthetase overactivity see phosphoribosylpyrophosphate synthetase superactivity
• PRPP synthetase superactivity see phosphoribosylpyrophosphate synthetase superactivity
• PRPS1 superactivity see phosphoribosylpyrophosphate synthetase superactivity
• PRS overactivity see phosphoribosylpyrophosphate synthetase superactivity
• PRS superactivity see phosphoribosylpyrophosphate synthetase superactivity
• renal-ear-anal-radial syndrome (REAR) see Townes-Brocks Syndrome
• Retinitis pigmentosa-deafness syndrome see Usher syndrome
• Rogers syndrome see thiamine-responsive megaloblastic anemia syndrome
• Schwannoma, Acoustic, Bilateral see neurofibromatosis type 2
• sclerosteosis see SOST-related sclerosing bone dysplasia
• SED congenita see spondyloepiphyseal dysplasia congenita
• SEDc see spondyloepiphyseal dysplasia congenita
• Sedlackova syndrome see 22q11.2 deletion syndrome
• sensorineural deafness and male infertility
• sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks Syndrome
• Shprintzen syndrome see 22q11.2 deletion syndrome
• Sly Syndrome see mucopolysaccharidosis type VII
• SOST-related sclerosing bone dysplasia
• SOST sclerosing bone dysplasia see SOST-related sclerosing bone dysplasia
• Sotos syndrome
• SPD see spondyloperipheral dysplasia
• spondyloepiphyseal dysplasia congenita
• spondyloperipheral dysplasia
• Stickler syndrome
• Supernumary der(22) syndrome see Emanuel syndrome
• Supernumary der(22)t(11;22) syndrome see Emanuel syndrome
• Supernumary derivative 22 chromosome syndrome see Emanuel syndrome
• Surdo-cardiac syndrome see Jervell and Lange-Nielsen syndrome
• Swiss cheese cartilage dysplasia see Kniest dysplasia
• Teschler-Nicola/Killian syndrome see Pallister-Killian mosaic syndrome
• tetrasomy 12p, mosaic see Pallister-Killian mosaic syndrome
• thiamine-responsive megaloblastic anemia syndrome
• Townes-Brocks Syndrome
• Townes syndrome see Townes-Brocks Syndrome
• Treacher Collins syndrome
• TRMA see thiamine-responsive megaloblastic anemia syndrome
• UDA syndrome see Muckle-Wells syndrome
• Undifferentiated deafness see nonsyndromic deafness
• unilateral intrauterine facial necrosis see craniofacial microsomia
• unilateral mandibulofacial dysostosis see craniofacial microsomia
• urticaria-deafness-amyloidosis syndrome see Muckle-Wells syndrome
• Usher syndrome
• VACTERL association
• van Buchem disease see SOST-related sclerosing bone dysplasia
• VATER association see VACTERL association
• VCFS see 22q11.2 deletion syndrome
• VCPDM see distal myopathy 2
• Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
• Velocardiofacial syndrome see 22q11.2 deletion syndrome
• VHL syndrome see von Hippel-Lindau syndrome
• vocal cord and pharyngeal weakness with distal myopathy see distal myopathy 2
• Vohwinkel syndrome
• von Hippel-Lindau syndrome
• Vrolik disease see osteogenesis imperfecta
• Waardenburg syndrome
• Weissenbacher-Zweymüller syndrome
• Wolfram syndrome
• WZS see Weissenbacher-Zweymüller syndrome
• zygoauromandibular dysplasia see Treacher Collins syndrome