branchiootorenal syndrome; branchio-oto-renal syndrome; BOR syndrome; Melnick-Fraser syndrome
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Introduction
branchiootic syndrome with renal dysplasia
Pathology
- abnormal development of the second branchial arch
- malformations of the ears & kidneys
- various combinations of
- preauricular pits
- branchial fistulae or cysts
- lacrimal duct stenosis
- structural defects of the outer, middle, or inner ear
- hearing loss may be due to mondini type cochlear defect & stapes fixation
- renal dysplasia
Genetics
- autosomal dominant
- mutations in 3 genes, EYA1, SIX1, & SIX5, are known to cause branchiootorenal syndrome
- ~40% of cases involve EYA1 mutations
- SIX1 & SIX5 mutations are much less common causes[4]
- associated with defects in EYA1 (type 1)[1]
- Melnick-Fraser syndrome)
- penetrance is high
- expressivity can be extremely variable
- associated with defects in SIX1
- associated with defects in SIX5 (type 2)[2]
Clinical manifestations
- asthenic habitus
- long narrow facies
- constricted palate
- deep overbite
- myopia
- hearing loss
More general terms
Additional terms
References
- ↑ Jump up to: 1.0 1.1 OMIM https://mirror.omim.org/entry/113650
- ↑ Jump up to: 2.0 2.1 OMIM https://mirror.omim.org/entry/610896
- ↑ Wikipedia: Branchio-oto-renal syndrome http://en.wikipedia.org/wiki/Branchio-oto-renal_syndrome
- ↑ Jump up to: 4.0 4.1 Genetics Home Reference: Branchiootorenal syndrome http://ghr.nlm.nih.gov/condition/branchiootorenal-syndrome
- ↑ Pierides AM et al A family with the branchio-oto-renal syndrome: clinical and genetic correlations. Nephrol. Dial. Transplant. (2002) 17 (6): 1014-1018. http://ndt.oxfordjournals.org/content/17/6/1014.full