Noonan syndrome


Noo·nan syn·drome

(nū'năn), [MIM*163950, MIM*163955] a syndrome found in both males and females, with a phenotype reminiscent of Turner syndrome; characterized by hypertelorism, downslanting of palpebral fissures, webbing of the neck, short stature, and congenital heart disease, especially pulmonary stenosis; normal chromosomal karyotype; autosomal dominant inheritance.

Noonan syndrome

Turner-like syndrome Neonatology A group of specific abnormalities affecting both males and females, both sporadic in appearance but also reflecting a hereditary component, possibly AD Clinical Webbing of neck, pectus excavatum, facial defects–low-set or abnormally shaped ears, ocular ptosis, hypertelorism, epicanthal folds, micrognathia, mild mental retardation, short stature, variable hearing loss, delayed puberty, undescended testicles, small penis, congenital heart disease–often, pulmonary stenosis. Cf Turner syndrome.

Noo·nan syn·drome

(nūn'ăn sin'drōm) A syndrome found in both males and females, with a phenotype reminiscent of Turner syndrome; characterized by hypertelorism, downslanting of palpebral fissures, webbing of the neck, short stature, and congenital heart disease, especially pulmonary stenosis; normal chromosomal karyotype; autosomal dominant inheritance.

Noonan,

Jacqueline A., U.S. pediatric cardiologist, 1921–. Noonan syndrome - the male phenotype of Turner syndrome, characterized by congenital heart disease.