Ankyloblepharon filiforme-imperforate anus syndrome

Ankyloblepharon filiforme-imperforate anus syndrome

Definition

An extremely rare developmental defect during embryogenesis malformation syndrome characterized by bands of extensile tissue connecting the margins of the upper and lower eyelids, in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.

Also known as Aughton-Hufnagle syndrome — per MONDO

Also identified as