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Costello syndrome
Pronunciation
Definition 1
A rare, genetic disorder marked by developmental problems, being shorter than normal, mental retardation, heart problems, unusual facial features, and extra folds of skin around the neck, hands, and feet. People with Costello syndrome have an increased risk of certain types of cancer, such as rhabdomyosarcoma (a soft tissue tumor) and neuroblastoma (cancer of immature nerve cells). (NCI Dictionary)
Definition 2
A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms. (NCI Thesaurus)
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