GTR Home > Conditions/Phenotypes > Aarskog syndrome


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). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AAS, FGDY, MRXS16, ZFYVE3, FGD1
    Summary: FYVE, RhoGEF and PH domain containing 1

Clinical features


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