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Aarskog-Scott syndrome

Disease definition

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

ORPHA:915

  • Synonym(s):
    • Aarskog syndrome
    • Faciodigitogenital syndrome
    • Faciogenital dysplasia
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.1
  • OMIM: 100050  305400
  • UMLS: C0175701
  • MeSH: -
  • GARD: 4775
  • MedDRA: 10067148

Detailed information

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