Watson Syndrome Clinical CharacteristicsOcular Features: Iris nodules similar to those seen in neurofibromatosis are found in some but not all patients with Watson syndrome. Systemic Features: Short stature and low normal intelligence are the most consistent features. Pulmonic stenosis and cafe-au-lait spots are also common. The macrocephaly is relative and not striking. Neurofibromas have been seen in a minority of patients. GeneticsMutations in the NF1(17q11.2) gene have been identified in members of several large pedigrees with an apparent autosomal dominant pattern. It remains uncertain if this condition is allelic to neurofibromatosis I(162200) or if Watson syndrome is the result of mutations in contiguous genes. The LEOPARD syndrome(151100) shares some clinical similarities such as short stature, pulmonic stenosis, cognitive deficits and cafe-au-lait spots but is caused by mutations in PTPN11. The phenotype also resembles Noonan syndrome in some aspects. Pedigree: Autosomal dominantTreatmentTreatment Options: There is no known treatment for this condition but multidisciplinary management is recommended for isolated problems. ReferencesArticle Title: Watson syndrome: is it a subtype of type 1 neurofibromatosis Allanson JE, Upadhyaya M, Watson GH, Partington M, MacKenzie A, Lahey D, MacLeod H, Sarfarazi M, Broadhead W, Harper PS, et al. Watson syndrome: is it a subtype of type 1 neurofibromatosis? J Med Genet. 1991 Nov;28(11):752-6. PubMed ID: 1770531 Read more about Watson Syndrome
Watson syndrome: is it a subtype of type 1 neurofibromatosis Allanson JE, Upadhyaya M, Watson GH, Partington M, MacKenzie A, Lahey D, MacLeod H, Sarfarazi M, Broadhead W, Harper PS, et al. Watson syndrome: is it a subtype of type 1 neurofibromatosis? J Med Genet. 1991 Nov;28(11):752-6. PubMed ID: 1770531
