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Ocular System

Ankyloblepharon filiforme adnatum (AFA)

Rare congenital malformation with single/multiple bands of tissue joining the upper and lower eyelids unilaterally/bilaterally.

Contents

Rare congenital malformation with single/multiple bands of tissue joining the upper and lower eyelids unilaterally/bilaterally.

  • Autosomal dominant inheritance
Photograph of the neonate with ankyloblepharon filiforme adnatum showing partial fusion of the left upper and lower eyelids by a band of tissue. | Ioannides, A., & Georgakarakos, N. D. (2011). Management of ankyloblepharon filiforme adnatum. Eye (London, England), 25(6), 823. https://doi.org/10.1038/eye.2011.26

Aetiology

Syndromic assocaitions:

  • Ankyloblepharon-ectodermal defects-cleft lip and palate (AEC) syndrome or Hay–Wells syndrome:
    • Triad: AFA, skin lesions, and orofacial clefting
  • Edwards syndrome (Trisomy 18)
  • CHANDS (curly hair, ankyloblepharon, nail dysplasia)

Other associated conditions:

  • Iridogoniodysgenesis with juvenile glaucoma
  • Cleft lip and palate
  • Hydrocephalus
  • Meningomyelocoele
  • Popliteal pterygium syndrome (popliteal webbing with cleft lip/palate)
  • Cardiac abnormalities: Ventricular septal defects and patent ductus arteriosus
  • Hydrocephaly
  • Imperforate anus
  • Ectodermal syndromes: Scalp erosions (reportedly seen in 100% of patients), unique pigmentary changes, nail changes, dental changes, and a decrease in sweating

Classification

GroupAssociated abnormalities
INone
IICardiac or central nervous system
IIIEctodermal syndrome
IVCleft lip and/or palate

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