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branchiootorenal syndrome; branchio-oto-renal syndrome; BOR syndrome; Melnick-Fraser syndrome

branchiootic syndrome with renal dysplasia Pathology: - abnormal development of the second branchial arch - malformations of the ears & kidneys - various combinations of a) preauricular pits b) branchial fistulae or cysts c) lacrimal duct stenosis d) structural defects of the outer, middle, or inner ear e) hearing loss may be due to mondini type cochlear defect & stapes fixation f) 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

Related

cryptophthalmos syndrome (Fraser syndrome) otofaciocervical syndrome

General

branchiootic syndrome

Database Correlations

OMIM correlations

References

  1. OMIM :accession 113650
  2. OMIM :accession 610896
  3. Wikipedia: Branchio-oto-renal syndrome http://en.wikipedia.org/wiki/Branchio-oto-renal_syndrome
  4. Genetics Home Reference: Branchiootorenal syndrome http://ghr.nlm.nih.gov/condition/branchiootorenal-syndrome
  5. 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