Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Watson syndrome

Watson syndrome is an autosomal dominant disorder caused by mutations of the NF1 gene. It is characteized by cafe-au-lait spots are associated with pulmonic stensis.

Symptoms

Café au lait spots
In Watson syndrome cafe-au-lait spots are associated with pulmonic stensis.

Systematic

Neurofibromatosis
Familial spinal neurofibromatosis
Legius syndrome
Neurofibromatosis 1
Neurofibromatosis-Noonan syndrome
Noonan syndrome 6
Watson syndrome
NF1

References:

1.

Upadhyaya M et al. (1992) Analysis of mutations at the neurofibromatosis 1 (NF1) locus.

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2.

Allanson JE et al. (1991) Watson syndrome: is it a subtype of type 1 neurofibromatosis?

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3.

Tassabehji M et al. (1993) Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

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4.

Sharland M et al. (1992) Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.

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5.

None (1967) Pulmonary stenosis, café-au-lait spots, and dull intelligence.

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6.

Orphanet article

Orphanet ID 3444 [^]
7.

OMIM.ORG article

Omim 193520 [^]
8.

Wikipedia article

Wikipedia EN (Watson_syndrome) [^]
Update: April 29, 2019