Last Updated on Oct 09, 2014

About

Aarskog Syndrome is a genetic disorder that mainly affects males. It affects the development of many parts of the body.

Aarskog–Scott syndrome is an inherited disease that affects the development of many parts of the body. A person's height, muscles, skeleton, genitals, and appearance of the face are affected by this genetic disease.

Aarskog-Scott Syndrome

Aarskog–Scott syndrome is also called Aarskog syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia. The syndrome is named after Dagfinn Aarskog and Charles I. Scott, Jr. who independently described the condition in 1970 and 1971, respectively.

Genetic testing for specific mutations may help in the diagnosis of the condition. Treatment targets the correction of various abnormalities in the body. Genetic counselling is indicated for individuals or families who carry genes for Aarskog–Scott syndrome.

References:

  1. Aarskog D (1970). "A familial syndrome of short stature associated with facial dysplasia and genital anomalies". J. Pediatr. 77 (5): 856–61
  2. Scott CI (1971). "Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome". Birth Defects Orig. Artic. Ser. 7 (6): 240–6.
  3. Orrico A, Galli L, Buoni S, Hayek G, Luchetti A, Lorenzini S, Zappella M, Pomponi MG, Sorrentino V. Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). Am J Med Genet A. 2005 May 15;135(1):99-102.
  4. A.D.A.M, U.S. National Library of Medicine, Wikepedia

Latest Publications and Research on Aarskog - Scott syndrome

Most Popular on Medindia