Ankyloblepharon filiforme adnatum-imperforate anus syndrome

Orpha code: 1074OMIM code:

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.

Disease data
Classification

Clinical subtype

Synonyms
Aughton-Hufnagle syndrome
Zespół Aughtona i Hufnagle'a
ORPHA code
1074
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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