Table 1

Branchiogenic disorders

SymptomsBOFBORBO
InheritanceAutosomal dominantAutosomal dominantAutosomal 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++