Aarskog-Scott syndrome

Definition:

Aarskog-Scott syndrome (AAS) is an X-linked disorder characterized by craniofacial, skeletal, and urogenital malformations and short stature. Mutations in the only known causative gene FGD1 are found in about one-fifth of the cases with the clinical diagnosis of AAS.

References:

[1]. Alfredo Orrico, et al. Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. Eur J Hum Genet. 2004 Jan;12(1):16-23. [Content Brief]

[2]. H-Hilger Ropers, et al. X-linked mental retardation. Nat Rev Genet. 2005 Jan;6(1):46-57. [Content Brief]

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