Costello syndrome

(redirected from Costello's syndrome)

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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.
Medical Eponyms © Farlex 2012
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Her family said she displays characteristics in common with the rare genetic disorder Costello's Syndrome. These include distinctive facial features, curly hair and an engaging personality.