branchio-oto-renal syndrome


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branchio-oto-renal syndrome

an autosomal dominant disorder manifested by branchial cysts, preauricular skin tags or sinuses, ear anomalies, and kidney malformations; caused by mutation in the EYA1 gene on 8q.

branchio-oto-renal syndrome

[brang′kē·ō·ō′tō·rē′nəl]
Etymology: Gk, branchia, gills + ous, ear + L, ren, kidney
branchial arch anomalies (preauricular pits, branchial fistulas or pits) associated with congenital deafness resulting from dysgenesis of the organ of Corti, and with renal dysplasia. It is inherited as an autosomal-dominant trait with high penetrance and variable expression.

branchio-oto-renal syndrome

An AD condition characterized by mixed hearing loss accompanied by a Mondini-type cochlear malformation, bilateral renal dysplasia with abnormalities of collecting ducts, and bilateral branchial clefts and/or cysts; BORS may be linked to breakpoint mutations on chromosome 8q
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3) Bilateral second branchial fistulae are even more rare and, if present, warrant a consult with a geneticist because of the possible association with branchio-oto-renal syndrome or other genetic disorders.
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis.
Associated conditions include deafness and branchio-oto-renal syndrome.
They are associated with branchio-oto-renal syndrome.
Ashley was born with branchio-oto-renal syndrome, a rare inherited condition that affected her hearing and kidneys.
Of these 10 cases, 5 were associated with either branchio-otic syndrome or branchio-oto-renal syndrome; 2 patients had familial branchio-otic syndrome, 2 had nonfamilial branchio-otic syndrome, and I had nonfamilial branchio-oto-renal syndrome.
1-8) Of these 10 cases, 5 were associated with either branchio-otic syndrome or branchio-oto-renal syndrome; 2 patients had familial branchio-otic syndrome, (5,7) 2 had nonfamilial branchio-otic syndrome, (1,4) and 1 had nonfamilial branchio-oto-renal syndrome (3) (table).
Branchio-oto-renal syndrome is an autosomal dominant disorder characterized bybranchial anomalies, auricular malformations, and renal anomalies.
In the absence of a family history, various major and minor criteria are used to establish a diagnosis of branchio-oto-renal syndrome.
Ultrasonography of the abdomen and renal examination showed normal kidney function, thus ruling out the possibility of branchio-oto-renal syndrome.
In the latter case, hearing loss can be caused by conditions such as osteogenesis imperfecta, branchio-oto-renal syndrome, orofaciodigital type II syndrome, and Treacher Collins syndrome.