Watson Syndrome

Clinical Characteristics

Ocular 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.

Genetics

Mutations in the NF1 [1](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 [2](162200 [3]) or if Watson syndrome is the result of mutations in contiguous genes.

The LEOPARD syndrome [4](151100 [5]) shares some clinical similarities such as short stature, pulmonic stenosis, cognitive deficits and cafe-au-lait spots but is caused by mutations in PTPN11 [6]. The phenotype also resembles Noonan syndrome [7] in some aspects.

Treatment

Treatment Options:

There is no known treatment for this condition but multidisciplinary management is recommended for isolated problems.

References

Article Title:

Watson syndrome: is it a subtype of type 1 neurofibromatosis [8]

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