Aarskog syndrome

Definitions related to aarskog syndrome: (aarskog-scott syndrome) Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010). (OMIM)

Online Mendelian Inheritance in Man

Johns Hopkins University, 2021 An X-linked condition associated in a subset of cases with mutation(s) in the FGD1 gene, encoding a complex signaling protein containing FYVE, RhoGEF, and PH domains. The condition is usually characterized by distinctive facial features, short stature, skeletal anomalies, shawl scrotum (altered anatomical relationship between the penis and the scrotum) cryptorchidism, and developmental delay.

NCI Thesaurus

U.S. National Cancer Institute, 2021 Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Intellectual development may also be affected. About 20 percent of people with Aarskog-Scott syndrome have mutations in the FGD1 gene. The cause in other affected individuals is unknown. The condition is...