A member asked:

Can you tell me about noonans syndrome?

A doctor has provided 1 answer
Dr. Johanna Fricke answered

Specializes in Pediatrics - Developmental and Behavioral

Noonan's Syndrome-1: Is from a mutation in a gene ;#40;ptpn11;#41; on the long arm of chromosome 12. Each child of a person with ns-1 has a 50% chance of having it. Features include wide-set ; down-slanting eyes, a broad forehead ; a webbed neck. Congenital heart disease ;#40;in 90%;#41;, spine deformities ; intellectual disability are seen. Other gene mutations with features similar to ns-1 can be detected on chromosomal microarray.

Answered 5/1/2014

4.1k views

Thank

Related Questions

A member asked:

What is the life span for noonan syndrome???

3 doctors weighed in across 2 answers

A member asked:

What is the life expectancy for kids with noonan syndrome?

A doctor has provided 1 answer

A member asked:

Can your toddler have noonan's syndrome with the sos1 mutation?

A doctor has provided 1 answer

A member asked:

Is there a relation between a low hairline and noonan syndrome?

A doctor has provided 1 answer