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	Genetic Conditions: Ear, Nose, & 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. - A - 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 Ataxia-deafness-optic atrophy, lethal see Arts syndrome Ataxia, fatal X-linked, with deafness and loss of vision see Arts syndrome Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome - B - BANF see Neurofibromatosis type 2 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 Bilateral acoustic neurofibromatosis see Neurofibromatosis type 2 BOR see Branchiootorenal syndrome Brachmann-De Lange Syndrome see Cornelia de Lange syndrome Branchio-Oculo-Facial Syndrome see Branchiootorenal 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 - C - Camurati-Engelmann disease Cardio-auditory-syncope syndrome see Jervell and Lange-Nielsen 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 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 CHARGE syndrome Chondrodystrophy with sensorineural deafness see Otospondylomegaepiphyseal dysplasia Congenital contractural arachnodactyly Congenital hereditary hematuria see Alport syndrome Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome Contractural arachnodactyly, congenital see Congenital contractural arachnodactyly Cornelia de Lange syndrome - D - 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-retinitis pigmentosa syndrome see Usher syndrome Deafness with goiter see Pendred syndrome 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 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 DiGeorge syndrome see 22q11.2 deletion syndrome Donnai-Barrow syndrome DRRS see Duane-radial ray syndrome Duane-radial ray syndrome Dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome - E - Emanuel syndrome Engelmann's disease see Camurati-Engelmann disease - F - Faciooculoacousticorenal syndrome see Donnai-Barrow syndrome Familial acoustic neuromas see Neurofibromatosis type 2 FOAR syndrome see Donnai-Barrow syndrome Fragilitas ossium see Osteogenesis imperfecta Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome - G - Goiter-deafness syndrome see Pendred syndrome Gout, PRPS-related see Phosphoribosylpyrophosphate synthetase superactivity Graefe-Usher syndrome see Usher syndrome - H - Hall-Hittner syndrome see CHARGE syndrome Hallgren syndrome see Usher syndrome Hematuria-nephropathy-deafness syndrome see Alport syndrome Hematuric hereditary nephritis see Alport syndrome 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 Heterozygous OSMED see Weissenbacher-Zweymüller syndrome Heterozygous otospondylomegaepiphyseal dysplasia see Weissenbacher-Zweymüller syndrome Hippel-Lindau disease see von Hippel-Lindau syndrome HSD10 deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency 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 - I - 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 - J - Jervell and Lange-Nielsen syndrome JLNS see Jervell and Lange-Nielsen syndrome - K - Kniest dysplasia - L - - M - 2M3HBA see 17β-hydroxysteroid dehydrogenase type 10 deficiency Mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome Mega-epiphyseal dwarfism see Otospondylomegaepiphyseal dysplasia Melnick-Fraser syndrome see Branchiootorenal syndrome 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 Mohr-Tranebjærg syndrome see Deafness-dystonia-optic neuronopathy syndrome Muckle-Wells syndrome Muscular dystrophy, oculopharyngeal see Oculopharyngeal muscular dystrophy MWS see Muckle-Wells syndrome - N - Nance-Insley syndrome see Otospondylomegaepiphyseal dysplasia Nance-Sweeney chondrodysplasia see Otospondylomegaepiphyseal dysplasia Neurofibromatosis type 2 NF2 see Neurofibromatosis type 2 Nonsyndromic deafness - O - Oculopharyngeal muscular dystrophy OI see Osteogenesis imperfecta Okihiro syndrome see Duane-radial ray syndrome OPMD see Oculopharyngeal muscular dystrophy OSMED see Otospondylomegaepiphyseal dysplasia Osteogenesis imperfecta Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia Otospondylomegaepiphyseal dysplasia - P - Pallister-Killian mosaic syndrome 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 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 - Q - - R - 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 - S - 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-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks syndrome Shprintzen syndrome see 22q11.2 deletion syndrome 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 - T - 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 - U - UDA syndrome see Muckle-Wells syndrome Undifferentiated deafness see Nonsyndromic deafness Urticaria-deafness-amyloidosis syndrome see Muckle-Wells syndrome Usher syndrome - V - van Buchem disease see SOST-related sclerosing bone dysplasia VCFS see 22q11.2 deletion syndrome Velo-cardio-facial syndrome see 22q11.2 deletion syndrome Velocardiofacial syndrome see 22q11.2 deletion syndrome VHL syndrome see von Hippel-Lindau syndrome von Hippel-Lindau syndrome Vrolik disease see Osteogenesis imperfecta - W - Waardenburg syndrome Weissenbacher-Zweymüller syndrome WZS see Weissenbacher-Zweymüller syndrome - X - - Y - - Z - Zygoauromandibular dysplasia see Treacher Collins syndrome The information in this page is primarily for reference and education. It is not intended to be a substitute for the advice of a physician. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.