Watson syndrome
Findings
No curated finding names Watson syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Watson syndrome is believed to be a variant of neurofibromatosis type 1. The symptoms of this condition are pulmonary valvular stenosis, cafe-au-lait spots and short stature. IQTest scores for individuals with Watson syndromecan rangebetween 60-100.Many people with this condition also have a larger than average head size (macrocephaly) and Lisch nodules. While mutations in the NF1 gene have been found in families with Watson syndrome, the exactcause of this condition is unknown. The conditionis inherited in an autosomal dominant pattern. Treatment aims at managing the specific symptoms of an individual.
Definition from the Mondo Disease Ontology (MONDO:0008672), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Low-set earsHPOHP:0000369
- 3 of 3 reported patients
- Multiple cafe-au-lait spotsHPOHP:0007565
- 3 of 3 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 3 of 3 reported patients
- EpicanthusHPOHP:0000286
- 2 of 3 reported patients
- HypertelorismHPOHP:0000316
- 2 of 3 reported patients
- Moderate global developmental delayHPOHP:0011343
Where it sits
- A kind of