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Noonan syndrome 1

Synonyms
Female pseudo-Turner syndrome; PTPN11-Related Noonan Syndrome; Turner Syndrome, Male; Turner phenotype with normal karyotype

Summary

Excerpted from the GeneReview: Noonan Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Amy E Roberts
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Available tests

131 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (131 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1, BRAF
    Summary: B-Raf proto-oncogene, serine/threonine kinase

  • Also known as: CFC3, MAPKK1, MEK1, MEL, MKK1, PRKMK1, MAP2K1
    Summary: mitogen-activated protein kinase kinase 1

  • Also known as: BPTP3, CFC, JMML, METCDS, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2, PTPN11
    Summary: protein tyrosine phosphatase non-receptor type 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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