Rare Diseases Symptoms Automatic Extraction

Optic nerve findings in CHILD syndrome.

[child syndrome]

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare disorder characterized by birth defects of several organ systems, including the skin, viscera, musculoskeletal system, and central nervous system. The authors present the first report of CHILD syndrome with ocular manifestations in a patient with progressive bilateral optic nerve atrophy.

Diseases presenting "birth defects" symptom

  • child syndrome
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • dentinogenesis imperfecta
  • hirschsprung disease
  • holt-oram syndrome
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • monosomy 21
  • oculocutaneous albinism

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