Last Updated on Oct 09, 2014

What are the Symptoms and Signs of Aarskog–Scott Syndrome?

Height, muscles, skeleton, genitals, and appearance of the face are affected by Aarskog–Scott syndrome.

Aarskog–Scott syndrome affects the normal development of many parts of the body. People with the condition often have:

  • Distinctive facial features:
  • Rounded face
  • Widely spaced eyes (hypertelorism)
  • Small nose
  • A long area between the nose and mouth (philtrum)
  • A widow's peak hairline (a V-shaped point in the hairline in the centre of the forehead is termed as widow’s peak)
  • Delayed tooth eruption
  • Mild-to-moderate height reduction by 1-3 years of age; they may catch up with a normal growth by puberty
  • Slight-to-moderate mental deficiency; hyperactivity and attention deficit may occur
  • Short neck; sides of the neck may be webbed
  • Sunken chest (pectus excavatum)
  • Changes in hands and feet:
  • Short fingers and toes (brachydactyly); incurving of fifth finger(clinodactyly) broad thumbs and big toes; webbing between fingers and toes
  • Protruding belly button
  • Shawl scrotum (scrotum surrounds the penis); testes may fail to descend (cryptorchidism)
  • Inguinal hernias (hernias in the groin region) where abdominal cavity contents may protrude into the hernia

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

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