Conditions / Syndrome
Noonan syndrome with multiple lentigines 1
info · Syndrome
A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.
Signs and symptoms
- Cafe-au-lait spot
- Hypertelorism
- Posteriorly rotated ears
- Multiple lentigines
- Ptosis
- Macrocephaly
- Epicanthus
- Parietal bossing
- Strabismus
- Unilateral renal agenesis
Also known as: LEOPARD syndrome 1