Townes-Brocks syndrome

Epidemiology

• rare

Genetics

• autosomal dominant
• associated with defects in SALL1

Clinical manifestations

• imperforate anus
• triphalangeal & supernumerary thumbs
• malformed ears & sensorineural hearing loss

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/107480