Last Updated on Oct 09, 2014

What is the Prognosis of Aarskog–Scott Syndrome?

Some children with Aarskog–Scott syndrome are born with serious heart defects. Some males suffer reduced fertility.


People with Aarskog–Scott syndrome may have a mild degree of mental slowness. Affected children usually have good social skills. Reduced fertility is a problem faced by some of the affected males.


  • Changes in the brain
  • Seizures
  • Testes may fail to descend (cryptorchidism)
  • Poor alignment of teeth
  • Some children are born with serious heart defects. Cleft lip with or without an opening in the roof of the mouth (cleft palate) is also found in some.


  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

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