Parents

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) short stature, recognizable craniofacial features, genital anomalies, 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 exhibit frequently a partial phenotype, mostly hand abnormalities, facial features and short stature, and more rarely learning difficulties.