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Clinical features

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

Features include:

  • multiple dysmorphic features:
    • microcephalic
    • hypotelorism
    • broad flat nose
    • sloping forehead
    • cleft lip and / or palate, bilateral
    • malformed, low set ears
    • redundant skin about nape of neck
    • polydactyly on post-axial side
    • single palmar crease in 60%
    • small eyes and multiple colobomata
  • there may be scalp skin defects - aplasia cutis
  • holoprosencephaly
  • exomphalos
  • congenital heart disease
  • during the limited survival there is severe developmental delay

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