Branchiogenic disorders
Symptoms | BOF | BOR | BO |
---|---|---|---|
Inheritance | Autosomal dominant | Autosomal dominant | Autosomal dominant |
Auricular pits/fistulas | + | + | + |
Cleft lip±palate | + | − | |
Pseudocleft of the upper lip | + | − | − |
Upper lip pits | + | ||
Bilateral postauricular cervical branchial sinus defects | + | + | + |
Branchial cleft/sinus/cysts | + | + | + |
Cervical/supra-auricular defects with aplastic overlying skin | + | − | − |
Haemangiomatous, scarred skin | + | − | − |
Low set ears with posterior rotation | + | ||
Hearing loss (conductive, sensorineural, mixed) | + | + | + |
Malformed, asymmetrical nose with broad bridge and flattened tip | + | − | − |
Microphthalmia | + | + | |
Nasolacrimal duct stenosis | + | + | |
Prematurely grey hair | ± | − | − |
Renal agenesis | + | + | − |
Renal aplasia, hypoplasia, dysplasia | + | + | − |