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Genetic and Rare Diseases Information Center (GARD)

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Watson syndrome


Other Names for this Disease
  • Cafe-au-lait spots with pulmonic stenosis
  • Pulmonic stenosis with cafe-au-lait spots
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Overview


Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQ test scores for individuals with Watson syndrome can range between 60-100.[1] Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exact cause of this condition is unknown. The condition is inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.[2]
Last updated: 4/2/2013

References

  1. Geoffrey Watson. Pulmonary stenosis, cafe au lait spots, and dull intelligence. Archives of Disease in Childhood. 1967; 42:223. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2019751/?page=2. Accessed 4/2/2013.
  2. Lacombe. Watson Syndrome. Orphanet. 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3444. Accessed 4/1/2013.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Watson syndrome. Click on the link to view a sample search on this topic.