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Miller-Dieker syndrome facial features

A child with Miller-Dieker syndrome, including prominent forehead, bitemporal hollowing, flat midface, short nose with upturned nares, thin upper lip, and slightly small jaw. (Contributed by Dr. William Dobyns.)

Associated Disorders

  • Classic lissencephaly
  • Cobblestone (type II) lissencephaly
  • Double cortex syndrome
  • Fukuyama-type congenital muscular dystrophy
  • Lennox-Gastaut syndrome
  • Lissencephaly with cerebella hypoplasia
  • Miller-Dieker syndrome
  • Muscle-eye-brain disease
  • Norman-Roberts syndrome
  • Partial lissencephaly
  • Polymicrogyria (pachygyria-polymicrogyria)
  • Schinzel-Giedion syndrome
  • Schizencephaly
  • Subcortical band heterotopias
  • Walker-Warburg syndrome
  • West syndrome
  • Winter-Tsukuhara syndrome
  • X-linked lissencephaly
  • X-linked lissencephaly with abnormal genitalia (XLAG)