Conditions / Syndrome
Noonan syndrome with multiple lentigines 2
info · Syndrome
A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25.
Signs and symptoms
- Epicanthus
- Curly hair
- Downslanted palpebral fissures
- Multiple lentigines
- Short stature
- Short neck
- Depressed nasal bridge
- Dry skin
- Hypertrophic cardiomyopathy
- Cafe-au-lait spot
Also known as: LEOPARD syndrome 2