Overview

Aarskog-Scott syndrome


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An X-linked developmental disorder (faciogenital dysplasia, FGDY) in which stature is disproportionately short and there are facial, skeletal, and urogenital abnormalities. The syndrome is caused by mutations in FYVE, RhoGEF and PH domain-containing protein-1 (FGD1).

Subjects: Chemistry — Medicine and Health.

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Reference entries
Aarskog–Scott syndrome
in A Dictionary of Biomedicine

Reference Entry

Aarskog‐Scott syndrome
in Oxford Dictionary of Biochemistry and Molecular Biology

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