Ankyloblepharon filiforme adnatum-imperforate anus syndrome

Orpha code: 1074OMIM code:

Definicja

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
Klasyfikacja

Clinical subtype

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

No additional description.

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