Costello syndrome

(redirected from congenital myopathy with excess of musce spindles)
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Costello syndrome

A rare hereditary disease (OMIM:218040) that overlaps cardiofaciocutaneous and Noonan syndromes, characterised by excess prenatal and defective postpartum growth, mental retardation, characteristic coarse facies, short stature, cardiovascular defects (e.g., pulmonary stenosis, hypertrophic cardiomyopathy, atrial tachycardia), increased risk of papillomas and rhabdomyosarcomas, and cutaneous and musculoskeletal defects.

Molecular pathology
Defects in HRAS, an oncogene on chromosome 11p15.5 whose protein product plays key roles in signal transduction, cause Costello syndrome.

Costello,

J.M., New Zealand physician.
Costello syndrome - syndrome of postnatal growth deficiency, mental subnormality, depressed nasal bridge, curly hair, short neck, cardiomyopathy, and other abnormalities.
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