branchiootic syndrome

Introduction

Same as branchiootorenal syndrome without renal dysplasia

Pathology

• various combinations of
  • preauricular pits
  • branchial cleft fistulae or cysts
  • lacrimal duct stenosis
  • structural defects of the outer, middle, or inner ear
  • otic defects include
    • malformed & hypoplastic pinnae,
    • narrowed external ear canal
    • bulbous internal auditory canal
    • stapes fixation
    • malformed & hypoplastic cochlea
  • hearing loss may be due to mondini type cochlear defect & stapes fixation
  • renal anomalies are absent

Genetics

• associated with defects in EYA1 (type 1)
• associated with defects in SIX1 (type 3)

Clinical manifestations

• asthenic habitus
• long narrow facies
• constricted palate
• deep overbite
• myopia
• hearing loss
  • sensorineural &/or conductive hearing loss

More general terms

• genetic syndrome (multisystem disorder)

More specific terms

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

Additional terms

• otofaciocervical syndrome

Database

• OMIM: https://mirror.omim.org/entry/602588
• OMIM: https://mirror.omim.org/entry/608389