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Aarskog syndrome

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Description

Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

OMIM

  • Mode of Inheritance

  • X-linked recessive inheritance

VARIANTS

25

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Genes

External Links

  • OMIM

    305400

  • Orphanet

    915

  • HPO
  • Medgen

    C0175701

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