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Ankyloblepharon filiforme adnatum-imperforate anus syndrome

Disease definition

Ankyloblepharon filiforme adnatum-imperforate anus syndrome is 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.

ORPHA:1074

  • Synonym(s):
    • Aughton-Hufnagle syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 697
  • MedDRA: -

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