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Aarskog–Scott syndrome is a rare disease inherited as autosomal dominant or X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. The Aarskog–Scott syndrome (AAS) is also known as the Aarskog syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia. ==Signs and symptoms== The Aarskog–Scott syndrome is a disorder with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils, joint laxity, shawl scrotum, and mental retardation. The physical phenotype varies with age and postpuberal males may have only minor remnant manifestations of the prepuberal phenotype. *Growth * * mild to moderate short stature evident by 1–3 years of age * * delayed adolescent growth spurt *Performance * * slight (dull normal) to moderate mental deficiency * * hyperactivity and attention deficit * * social performance usually good *Face * * rounded face * * widow's peak hairline * * wide-set eyes (hypertelorism) * * droopy eyelids (blepharoptosis) * * downslanting eye slits (palpebral fissures) * * small nose with nostrils tipped forward (anteverted) * * underdeveloped mid-portion of the face (maxilla) * * wide groove above the upper lip (broad philtrum) * * crease below the lower lip * * delayed eruption of teeth * * top portion (upper helix) of the ear folded over slightly *Hands and feet * * small, broad hands and feet * * short fingers and toes (brachydactyly) * * in-curving of the 5th finger (clinodactyly) * * mild interdigital webbing, between fingers as well as toes * * single transverse "simian crease" in palm * * broad thumbs and big toes *Neck * * short neck * * webbing of sides of the neck *Chest * * mild pectus excavatum (sunken chest) *Abdomen * * protruding navel * * inguinal hernias *Genitalia * * shawl scrotum * * undescended testicles 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Aarskog–Scott syndrome」の詳細全文を読む スポンサード リンク
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