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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 (Xu et al. 2010; Volter et al. 2014) or possibly in an autosomal dominant or recessive pattern (Xu et al. 2010). Population surveys estimate that Aarskog occurs in approximately 1 per million in the general population (Gorski et al. 2000).
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...
References and Reading
- Orrico, A., Galli, L., Obregon, M. G., de Castro Perez, M. F., Falciani, M., & Sorrentino, V. (2007). Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating variant of the FDG1 gene. American Journal of Medical Genetics, 143, 58–63.CrossRefGoogle Scholar