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GTR Home > Conditions/Phenotypes > Café-au-lait macules with pulmonary stenosis

Café-au-lait macules with pulmonary stenosis

Synonyms
Pulmonic stenosis with cafe-au-lait spots; Watson Syndrome

Summary

Watson syndrome (WTSN) is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991). [from OMIM]

Available tests

80 tests are in the database for this condition.

Clinical tests (80 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NFNS, VRNF, WSS, NF1
    Summary: neurofibromin 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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