Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:1964

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Also called Char-Douglas-Dungan syndrome

Body system
Skin diseases
Inheritance pattern
Autosomal dominant
Typical age of onset
Neonatal
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:1964 is classified under "Skin diseases" in the Orphanet nomenclature.

Common signs

  • Hypertelorism
  • Ventricular extrasystoles
  • Bacterial endocarditis
  • Irregular hyperpigmentation
  • Abnormal dermatoglyphics
  • Tooth agenesis