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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...
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References and Reading
Aarskog, D. (1970). A familial syndrome of short stature associated with facial dysplasia and genital anomalies. The Journal of Pediatrics, 77, 856–861.
Gorski, J. L., Estrada, L., Changhzi, H., & Zhou, L. (2000). Skeletal-specific expression of FDG1 during bone formation and skeletal defects in faciogential dysplasia (FDGY; Aarskog syndrome). Developmental Dynamics, 218, 573–586.
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.
Pilozzi-Edwards, L., Maher, T. A., Basran, R. K., Milunsky, A., Al-Thihli, K., Braverman, N. E., et al. (2011). Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism. American Journal of Medical Genetics Part A, 155, 1987–1990.
Schwartz, C. E., Gillessen-Kaesbach, G., May, M., Cappa, M., Gorski, J., Steindl, K., et al. (2000). Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. European Journal of Human Genetics, 8, 869–874.
Shalev, S. A., Chevinski, E., Weiner, E., Mazor, G., Friez, M. J., & Schwartz, C. E. (2006). Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. American Journal of Medical Genetics Part A, 140(2), 162–165.
Taub, M. B., & Stanton, A. (2008). Aarskog syndrome: A case report and literature review. Optometry, 79, 371–377.
Volter, C., Martinez, R., Hagen, R., & Kress, W. (2014). Aarskog-Scott syndrome: A novel mutation in the FGD1 gene associated with severe craniofacioal dysplasia. European Journal of Pediatrics, 173, 1373–1376.
Xu, M., Qi, M., Zhou, H., Qui, H., et al. (2010). Familial syndrome resembling Aarskog syndrome. American Journal of Medical Genetics Part A, 152A, 2017–2022.
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Taub, M.B. (2021). Aarskog Syndrome. In: Volkmar, F.R. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, Cham. https://doi.org/10.1007/978-3-319-91280-6_1825
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DOI: https://doi.org/10.1007/978-3-319-91280-6_1825
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