Aarskog-Scott syndrome

Aarskog-Scott syndrome is a rare genetic disorder inherited in an X-linked pattern and marked by short stature, distinctive facial features, and skeletal and genital abnormalities. It primarily affects males, while female carriers may show mild features. Around one in five diagnosed cases carries an identifiable mutation in the FGD1 gene, which produces a protein that activates the signaling molecule CDC42 involved in tissue development; the cause in the remaining cases is not established. Characteristic features include wide-set eyes, a small nose, a long philtrum, and a widow's peak hairline, along with short stature in childhood that tends to catch up by puberty, short and often curved fingers with webbing, genital anomalies such as a shawl scrotum or undescended testes, and, in some cases, heart defects, cleft lip or palate, hernias, or variable intellectual development. It is coded Q87.1 in the ICD-10. The syndrome was first described in 1970 by the Norwegian pediatrician and geneticist Dagfinn Aarskog, and independently in 1971 by the American medical geneticist Charles I. Scott Jr.