This website provides information on patients with mutations in the FGD1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the FGD1 gene, Aarskog-Scott syndrome, is an X-linked condition. 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). 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.

Not all individuals with a mutation in the FGD1 gene have all these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the FGD1 gene.

Annick Toutain, MD, PhD, Genetics Department, University Hospital, Tours, France, annick.toutain@univ-tours.fr

Nathalie Ronce, molecular biologist, Genetics Department, University Hospital, Tours, France, n.ronce@chu-tours.fr

Marie-Laure Vuillaume-Winter, PhD, Genetics Department, University Hospital, Tours, France, m.winter@chu-tours.fr