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branchiootic syndrome
Same as branchiootorenal syndrome without renal dysplasia
Pathology:
- various combinations of
a) preauricular pits
b) branchial cleft fistulae or cysts
c) lacrimal duct stenosis
d) structural defects of the outer, middle, or inner ear
e) otic defects include
1] malformed & hypoplastic pinnae,
2] narrowed external ear canal
3] bulbous internal auditory canal
4] stapes fixation
5] malformed & hypoplastic cochlea
f) hearing loss may be due to mondini type cochlear defect & stapes fixation
g) renal anomalies are absent
Genetics:
- associated with defects in EYA1 (type 1) [1]
- associated with defects in SIX1 (type 3) [2]
Clinical manifestations:
- asthenic habitus
- long narrow facies
- constricted palate
- deep overbite
- myopia
- hearing loss
- sensorineural &/or conductive hearing loss
Related
otofaciocervical syndrome
Specific
branchiootorenal syndrome; branchio-oto-renal syndrome; BOR syndrome; Melnick-Fraser syndrome
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM correlations
References
- OMIM :accession 602588
- OMIM :accession 608389