Genetic Diseases & Conditions - 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.

Alport syndrome
Alström syndrome
Angiomatosis retinae see von Hippel-Lindau syndrome
ARNSHL see nonsyndromic deafness, autosomal recessive
Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
Autosomal recessive nonsyndromic hearing loss see nonsyndromic deafness, autosomal recessive
Autosomal Recessive Sensorineural Hearing Impairment and Goiter see Pendred syndrome
BANF see neurofibromatosis type 2
BDLS see Cornelia de Lange syndrome
Bilateral Acoustic Neurofibromatosis see neurofibromatosis type 2
Brachmann-De Lange Syndrome see Cornelia de Lange syndrome
Brittle bone disease see osteogenesis imperfecta
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
CDLS see Cornelia de Lange syndrome
Cerebelloretinal Angiomatosis, Familial see von Hippel-Lindau syndrome
Chondrodystrophy with sensorineural deafness see otospondylomegaepiphyseal dysplasia
congenital hereditary hematuria see Alport syndrome
Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
Cornelia de Lange syndrome
De Lange Syndrome see Cornelia de Lange syndrome
Deafness-retinitis pigmentosa syndrome see Usher syndrome
Deafness with goiter see Pendred syndrome
22q11.2 deletion syndrome
DiGeorge Syndrome see 22q11.2 deletion syndrome
dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome
Ekman-Lobstein disease see osteogenesis imperfecta
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
Hallgren syndrome see Usher syndrome
hematuria-nephropathy-deafness syndrome see Alport syndrome
hematuric hereditary nephritis see Alport syndrome
haemorrhagic familial nephritis see Alport syndrome
haemorrhagic hereditary nephritis see Alport syndrome
Hereditary arthro-ophthalmopathy see Stickler syndrome
hereditary familial congenital haemorrhagic 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
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 see Treacher Collins syndrome
Mega-epiphyseal dwarfism see otospondylomegaepiphyseal dysplasia
Metatropic dwarfism, type II see Kniest dysplasia
Metatropic dysplasia type II see Kniest dysplasia
MFD1 see Treacher Collins syndrome
Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia
Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia
neurofibromatosis type 2
NF2 see neurofibromatosis type 2
nonsyndromic deafness
OI see osteogenesis imperfecta
OSMED see otospondylomegaepiphyseal dysplasia
osteogenesis imperfecta
Osteopsathyrosis see osteogenesis imperfecta
Oto-spondylo-megaepiphyseal dysplasia see otospondylomegaepiphyseal dysplasia
otospondylomegaepiphyseal dysplasia
Pendred syndrome
Pierre Robin syndrome with fetal chondrodysplasia see Weissenbacher-Zweymüller syndrome
Progressively deforming osteogenesis imperfecta with normal sclerae see osteogenesis imperfecta, type III
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
Shprintzen syndrome see 22q11.2 deletion syndrome
spondyloepiphyseal dysplasia congenita
Stickler syndrome
Surdo-cardiac syndrome see Jervell and Lange-Nielsen syndrome
Swiss cheese cartilage dysplasia see Kniest dysplasia
Treacher Collins syndrome
Trias fragilitis ossium see osteogenesis imperfecta, type I
Undifferentiated deafness see nonsyndromic deafness
Usher syndrome
Van der Hoeve syndrome see osteogenesis imperfecta, type I
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

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