Ankyloblepharon filiforme adnatum-imperforate anus syndrome

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Ankyloblepharon filiforme adnatum-imperforate anus syndrome

Synonyms: Aughton-Hufnagle syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Ankyloblepharon filiforme adnatum-imperforate anus syndrome?

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