Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:2850

Alopecia-intellectual disability syndrome

Also called Perniola-Krajewska-Carnevale syndrome

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

ORPHA:2850 is classified under "Skin diseases" in the Orphanet nomenclature.

Common signs

  • Microcephaly
  • Hearing impairment
  • Intellectual disability
  • Hypotonia
  • Alopecia
  • Sparse scalp hair