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Aarskog Syndrome [Supplementary Concept]

An X-linked recessive disorder with wide phenotypic variability characterized by short stature, HYPERTELORISM, shawl scrotum, and BRACHYDACTYLY. Other features, such as joint hyperextensibility, short nose, widow's peak, and INGUINAL HERNIA, may also occur. Most patients do not have intellectual disability, but some may have neurobehavioral features. Carrier females may present with subtle features. Mutations in the FGD1 gene have been identified. OMIM: 305400. Aarskog-like syndrome is a similar autosomal recessive disorder. OMIM: 227330

Date introduced: June 25, 2010

MeSH Unique ID: C535331

Heading Mapped to:

Entry Terms:

  • Scott Aarskog Syndrome
  • Faciogenital Dysplasia
  • Aarskog Disease
  • Faciodigitogenital Syndrome
  • Aarskog-Scott Syndrome
  • Facio-Digito-Genital Dysplasia
  • Faciodigitogenital Syndrome, Recessive
  • Aarskog-Like Syndrome
  • Kuwait Type Faciodigitogenital Syndrome

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