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LEOPARD syndrome 2

Synonyms
RAF1-Related LEOPARD Syndrome

Summary

Excerpted from the GeneReview: Noonan Syndrome with Multiple Lentigines
Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck, and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth restriction resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25th centile for age. Sensorineural hearing deficits, present in approximately 20% of affected individuals, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML.
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:
Bruce D Gelb
Marco Tartaglia
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Available tests

81 tests are in the database for this condition.

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Clinical tests (81 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMD1NN, CRAF, NS5, Raf-1, c-Raf, RAF1
    Summary: Raf-1 proto-oncogene, serine/threonine kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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