Aarskog-Scott syndrome (AAS) or faciogenital dysplasia (FGD) is an X-linked syndrome with a recessive mode of inheritance (OMIM #305400). This condition is characterized by a distinguishing combination of short stature, facial, genital and skeletal anomalies. Additional features include; mental retardation, joint hyperextensibility, ptosis and inguinal/umbilical hernia. Importantly, clinical presentations of patients vary to a great extent, which impedes reaching a clear-cut diagnosis. In Jan 19, 2017, Abdul Rezzak Hamzeh, Fatima Saif and others published an article in << Archives of Oral Biology >> which title is “A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE”，reported the relationship between a novel FGD1 variant and Aarskog-Scott syndrome. The article concluded that the variant is predicted to be a null mutation, and this is the first report of its kind from the United Arab Emirates.
Read More
