Conditions / Syndrome
Watson syndrome
info · Syndrome
A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2.
Signs and symptoms
- Multiple cafe-au-lait spots
- Posteriorly rotated ears
- Low-set ears
- Epicanthus
- Moderate global developmental delay
- Hypertelorism
- Pectus carinatum
- Neurofibroma
- Short stature
- Relative macrocephaly