Aarskog-scott syndrome (faciogenital dysplasia)

General: Sex-linked; characterized by 454h74e 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

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

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