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Ankyloblepharon filiforme-imperforate anus syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: ankyloblepharon filiforme adnatum-imperforate anus syndrome; Ankyloblepharon filiforme adnatum-imperforate anus syndrome; ankyloblepharon filiforme-imperforate anus syndrome; Aughton-Hufnagle syndrome
Modes of inheritance:
Unknown inheritance
MedGen UID:
Concept ID:
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Monarch Initiative: MONDO:0015201
Orphanet: ORPHA1074


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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnkyloblepharon filiforme-imperforate anus syndrome
Follow this link to review classifications for Ankyloblepharon filiforme-imperforate anus syndrome in Orphanet.

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