Noonan syndrome 11

info · Genetic

A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3.

Signs and symptoms

Relative macrocephaly
Thick vermilion border
Hypertelorism
Bulbous nose
Feeding difficulties in infancy
Posteriorly rotated ears
Downslanted palpebral fissures
Bilateral sensorineural hearing impairment
Delayed speech and language development
Delayed ability to walk

Also known as: NS11