Watson syndrome

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Watson syndrome
Classification and external resources
ICD-10 Q87.1
OMIM 193520
DiseasesDB 32244
MeSH D009456

Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas.[1]

Watson syndrome is allelic to NF1, the same gene associated with neurofibromatosis type 1.[2]

See also[edit]

References[edit]

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 725, 831. ISBN 1-4160-2999-0. 
  2. ^ Allanson JE, Upadhyaya M, Watson GH et al. (November 1991). "Watson syndrome: is it a subtype of type 1 neurofibromatosis?" (PDF). J. Med. Genet. 28 (11): 752–6. doi:10.1136/jmg.28.11.752. PMC 1017110. PMID 1770531.