A cardiofacial syndrome with a variable phenotype, which may change with age, many characteristics of which overlap those of the Turner syndrome. Short stature and mild mental retardation are the main features of this syndrome. Webbed neck, heart defects, chest deformities, characteristic facial features, and other abnormalities, and occasional hyperpyrexia may be associated. Cardiofaciocutaneous and Noonan syndromes are sometimes considered the same entity.
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eMedicine - Noonan Syndrome : Article by Jennifer Ibrahim, MD
Thorough summary of history, diagnosis, and treatment.
GeneReviews: Noonan Syndrome
Summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling and molecular genetics.
MedlinePlus: Noonan Syndrome
Includes the alternate names, a summary and a list of major features for Noonan syndrome.
NHS Choices: Noonan Syndrome
Provides information on this genetic disorder. Includes details of symptoms, causes, diagnosis and treatment.
NORD - Noonan Syndrome
Offers the synonyms, a general discussion and further resources.
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Last update:October 17, 2016 at 2:54:46 UTC