Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:2855

Perrault syndrome

Also called XX gonadal dysgenesis-deafness syndrome, XX gonadal dysgenesis-hearing loss syndrome

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive
Typical age of onset
Adolescent, Adult, Childhood
Estimated prevalence
<1 / 1 000 000 (Worldwide)
Rarity class
<1 / 1 000 000

ORPHA:2855 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs

  • Sensorineural hearing impairment
  • Increased circulating gonadotropin level
  • Hypoplasia of the uterus
  • Primary amenorrhea
  • Premature ovarian insufficiency
  • Streak ovary