Aarskog-Scott syndrome, is a rare X-linked condition of which the precise prevalence is unknown, but is estimated around 1/25 000 individuals.
It is a multisystem disorder characterized in male patients by mild to moderate (often of prenatal onset) statural growth deficiency, recognizable craniofacial features, genital anomalies, mainly shawl scrotum and cryptorchidism, limb and skeletal anomalies, variable neurodevelopmental problems - mainly learning difficulties and attention deficit, rarely intellectual disability -, non-specific ophthalmological and dental problems, rare congenital malformations (particularly heart defects, cleft lip/palate, anal malformations). Not all individuals with a pathogenic variant in the FGD1 gene have all these features. A recent publication has underlined the possibility of cerebral vascular dysplasia and aortic root dilatation which require a particular attention in the follow-up of the patients, although their relationship with Aarskog-Scott remains to be determined precisely. The possible occurrence of a myopathy remains uncertain at the moment.
Female carriers are considered as mostly asymptomatic but they seem to frequently exhibit a partial phenotype, mostly hand abnormalities, facial features and short stature, and more rarely learning difficulties.