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Ankyloblepharon filiforme adnatum-cleft palate syndrome

Disease definition

A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal.

ORPHA:1072

Classification level: Subtype of disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 106250
  • UMLS: C1302999  C1862866
  • MeSH: C536373
  • GARD: 696
  • MedDRA: -
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