Syndrome, Aarskog-Scott

Syndrome, Aarskog-Scott
This disorder is characterized by multiple birth defects including wide spaced eyes (ocular hypertelorism), front-facing (anteverted) nostrils, a broad upper lip, a malformed ("saddle-bag") scrotum, and laxity of the ligaments resulting in bending back of the knees (genu recurvatum), flat feet, and overly extensible fingers. This condition is inherited. There are X-linked and autosomal (non-X-linked) forms of the disease. The gene for the X-linked form of the disease has been mapped to chromosome band Xp11.21. The disease is named for DJ Aarskog (1928-) and CI Scott, Jr. (1934-), Norwegian and American pediatricians, respectively, who described it in 1970-71. It is also known descriptively as faciodigitogenital dysplasia.

Medical dictionary. 2011.

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  • Aarskog-Scott-Syndrom — Klassifikation nach ICD 10 Q87.1 Angeborene Fehlbildungssyndrome, die vorwiegend mit Kleinwuchs einhergehen Aarskog Syndrom …   Deutsch Wikipedia

  • Aarskog-Scott syndrome — This disorder is characterized by multiple birth defects including wide spaced eyes (ocular hypertelorism), front facing (anteverted) nostrils, a broad upper lip, a malformed ( saddle bag ) scrotum, and laxity of the ligaments resulting in… …   Medical dictionary

  • Síndrome de Aarskog-Scott — Clasificación y recursos externos CIE 10 Q 87.1; q 80 CIE 9 759.89 OMIM …   Wikipedia Español

  • Aarskog syndrome — Aarskog Scott syndrome an X linked syndrome characterized by ocular hypertelorism, anteverted nostrils, broad upper lip, peculiar scrotal “shawl” above the penis, and small hands. Called also faciogenital dysplasia and faciodigitogenital s …   Medical dictionary

  • Aarskog-Syndrom — Klassifikation nach ICD 10 Q87.1 Angeborene Fehlbildungssyndrome, die vorwiegend mit Kleinwuchs einhergehen Aarskog Syndrom …   Deutsch Wikipedia

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