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Aarskog-Scott syndrome is characterized by features such as widely spaced eyes (hypertelorism), nostrils that face forward (anteverted), a broad upper lip, a malformed nose often described as "saddle-bag" shaped, and loose ligaments that cause the knees to bend backward (recurvatum), along with flat feet and fingers that are excessively flexible. The condition can be passed down through both X-linked and autosomal inheritance. The gene associated with the X-linked type is located on chromosome band Xp11.21 and is known as the FGD1 gene. This syndrome was first described by pediatricians DJ Aarskog from Norway and CI Scott, Jr. from the United States in 1970 and 1971, respectively. It is also referred to as faciodigitogenital or faciogenital dysplasia.
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