Aarskog Syndrome

Synonyms

Aarskog-Scott syndrome; Faciogenital dysplasia

Definition

Aarskog syndrome was first reported in 1970 by Aarskog in a seven-patient case series. The syndrome is characterized by short stature with peculiar facies, “shawl” scrotum (the scrotal folds encircle the penis ventrally), cryptorchidism (the testis fails to descend into its normal position in the scrotum), and abnormalities of the hands and feet (Aarskog, 1970). Aarskog syndrome can be inherited as an X-linked disorder caused by FGD1 mutations or possibly in an autosomal dominant or recessive pattern (Xu et al., 2010).

Intelligence ranges from normal to mild mental retardation. A normal IQ distribution has been found (Pilozzi-Edwards et al., 2011). Mild learning difficulties and attention deficit hyperactivity disorder have been reported (Pilozzi-Edmonds et al.). Comorbidity has been documented with autism (Schwartz et al., 2000).

Birth size is often normal. Until puberty, most patients are short with height at or below...