Conditions / Genetic

Noonan syndrome 1

info · Genetic · ICD-10: Q87.1

A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.

Signs and symptoms

Cryptorchidism
Short stature
Low-set ears
Downslanted palpebral fissures
Feeding difficulties in infancy
Low posterior hairline
Webbed neck
Bruising susceptibility
Ptosis
Epicanthus

Also known as: NS1