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
• Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
• Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome
• BANF see neurofibromatosis type 2
• BDLS see Cornelia de Lange syndrome
• Beals-Hecht syndrome see congenital contractural arachnodactyly
• Beals syndrome see congenital contractural arachnodactyly
• 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
• 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
• 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
• 22q11.2 deletion syndrome
• Der(22) syndrome due to 3:1 meiotic disjunction events see Emanuel syndrome
• Diaphyseal Dysplasia, Progressive see Camurati-Engelmann disease
• diaphyseal hyperostosis see Camurati-Engelmann disease
• DiGeorge Syndrome see 22q11.2 deletion 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
• Familial Acoustic Neuromas see neurofibromatosis type 2
• Fragilitas ossium see osteogenesis imperfecta
• Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome
• Goiter-deafness syndrome see Pendred syndrome
• Graefe-Usher syndrome see Usher syndrome
• 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
• imperforate anus-hand and foot anomalies syndrome see Townes-Brocks Syndrome
• Insley-Astley syndrome see otospondylomegaepiphyseal dysplasia
• Isolated deafness see nonsyndromic deafness
• Jervell and Lange-Nielsen syndrome
• JLNS see Jervell and Lange-Nielsen syndrome
• Kniest dysplasia
• 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
• Mohr-Tranebjærg syndrome see deafness-dystonia-optic neuronopathy syndrome
• Muckle-Wells syndrome
• Muscular Dystrophy, Oculopharyngeal see oculopharyngeal muscular dystrophy
• MWS see Muckle-Wells syndrome
• Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia
• Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia
• neurofibromatosis type 2
• NF2 see neurofibromatosis type 2
• nonsyndromic deafness
• 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
• PDD see Camurati-Engelmann disease
• Pendred syndrome
• Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome
• Progressive muscular dystrophy, oculopharyngeal type see oculopharyngeal muscular dystrophy
• renal-ear-anal-radial syndrome (REAR) see Townes-Brocks Syndrome
• Retinitis pigmentosa-deafness syndrome see Usher syndrome
• Schwannoma, Acoustic, Bilateral see neurofibromatosis type 2
• 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
• 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
• Townes-Brocks Syndrome
• Townes syndrome see Townes-Brocks Syndrome
• Treacher Collins syndrome
• UDA syndrome see Muckle-Wells syndrome
• Undifferentiated deafness see nonsyndromic deafness
• urticaria-deafness-amyloidosis syndrome see Muckle-Wells syndrome
• Usher syndrome
• 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
• Waardenburg syndrome
• Weissenbacher-Zweymüller syndrome
• WZS see Weissenbacher-Zweymüller syndrome
• zygoauromandibular dysplasia see Treacher Collins syndrome