What is Aarskog Syndrome?

What is Aarskog Syndrome?

This disorder is also known by other names such as Scott Aarskog Syndrome, FGDY, Faciogenital Dysplasia, Faciodigitogenital syndrome, AAS, Aarskog Scott Syndrome and Aarskog disease. It is very rare genetic disorder which is characterized by stunted growth which will not be visible until the child attains 3 years of age. It is also characterized by broad facial abnormalities, mild intellectual disability, genital anomalies and musculoskeletal anomalies. This genetic disorder is linked to X Chromosome and generally seen in males although milder form is seen in females in rare cases. Changes / Mutations in FGD1 gene might be the reason behind this condition.