Skeletal, facial, and genital anomalies with possible cervical hypermotility and odontoid subluxation.

Aarskog-Scott Syndrome; Faciogenital Dysplasia; Faciodigitogenital Syndrome.

First described in 1970 by the Norwegian pediatric endocrinologist Dagfinn Aarskog.

Approximately 200 cases have been reported till date and birth prevalence has been estimated to be approximately 4 in 1,000,000.

Most commonly X-linked recessive transmission; however, genetic heterogeneity, autosomal dominant inheritance, and de novo mutations have been described. The mutation affects the faciogenital dysplasia 1 (FGD1) gene mapped to the Xp11.21 region.

The FGD1 gene encodes a guanine nucleotide exchange factor that specifically activates a particular set of guanosine triphosphatase involved in cellular signaling, migration, growth, and differentiation. Mutations in the FGD1 gene predominantly affect specific skeletal structures, including the face, cervical vertebrae, and distal extremities.