Aarskog Scott Syndrome

Aarskog-Scott Syndrome (Faciogenital Dysplasia) 4

General: Sex-linked; characterized by ocular hypertelorism, anteverted nostrils, broad upper lip, and saddlebag scrotum.

Ocular: Ptosis; hypertelorism.

Clinical: Hyperextensibility of fingers; genu recurvatum; flat feet; hypermobility in cervical spine with neurologic deficit; cleft lip and palate; anteverted nostrils; broad upper lip; abnormal penoscrotal relations; "saddlebag scrotum."

Bowls E, et al. Aarskog-Scott syndrome: full male and female expression associated with an X autosome translocation. Am J Med Genet 1984; 17:595-602.

McKusick VA. Mendelian inheritance in man, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Scott EI. Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome. Birth Defects 1971; 6:240-246.