Watson syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PULMONIC STENOSIS WITH CAFE-AU-LAIT SPOTS CAFE-AU-LAIT SPOTS WITH PULMONIC STENOSIS Pulmonic stenosis with ' cafe-au-lait' spots |
| Number of Symptoms | 10 |
| OrphanetNr: | 3444 |
| OMIM Id: |
193520
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| ICD-10: |
Q85.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
autosomal dominant Autosomal dominant inheritance [Omim] |
| Age of onset: |
Childhood [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0004482) | Relative macrocephaly | 44 / 7739 | ||||
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(HPO:0009737) | Lisch nodules | 10 / 7739 | ||||
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(HPO:0001067) | Neurofibromas | 7 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0000997) | Axillary freckling | 9 / 7739 | ||||
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(HPO:0007565) | Multiple cafe-au-lait spots | 11 / 7739 | ||||
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(HPO:0001626) | Abnormality of the cardiovascular system | 73 / 7739 | ||||
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(OMIM) | Pulmonary valvular stenosis | 4 / 7739 | ||||
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(OMIM) | Low IQ | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Watson syndrome 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 ... |
| Clinical Description OMIM |
Watson (1967) described 15 persons from 2 generations of each of 3 families with pulmonic stenosis (8/15), cafe-au-lait spots (15/15) and low normal or dull intelligence (12/15). There were 8 males and 7 females; male-to-male transmission was noted. ... |
| Molecular genetics OMIM |
Supporting the conclusion that Watson syndrome is allelic to NF1 is the finding by Upadhyaya et al. (1992) of an 80-kb deletion in the NF1 gene (613113.0011) in a patient with Watson syndrome. Similarly, Tassabehji et al. (1993) ... |