Costello Syndrome

Costello syndrome is a genetic disorder due to missense mutations in HRAS gene [1], which is detected in 80 – 90% of those with the clinical diagnosis and can have cardiac involvement. Aoki et al identified four heterozygous de novo mutations of HRAS in twelve of thirteen patients studied by them. These have been previously reported as somatic and oncogenic mutations in various tumours. The authors noted that germline mutations in HRAS alter human development and increase susceptibility to tumours. Patients with Costello syndrome have a 15% lifetime risk of malignant tumors including rhabdomyosarcoma, neuroblastoma and transitional cell carcinoma. Inheritance is in an autosomal dominant pattern. Cardiac involvement in Costello syndrome occurs in the form of hypertrophic cardiomyopathy, valvular pulmonary stenosis and atrial arrhythmias (chaotic atrial rhythm/multifocal atrial tachycardia or ectopic atrial tachycardia). Children with Costello syndrome have failure to thrive, short stature, developmental delay, intellectual disability, coarse facial features, hypotonia and joint laxity. Polyhydramnios, often severe, is an important prenatal association (90%) as well as severe postnatal feeding difficulties. Web: https://johnsonfrancis.org/professional/costello-syndrome/

costella syndrome is a genetic disorder due to missense mutation in hris gene which is detected in 80 to 90 percent of those with the clinical diagnosis and can have cardiac involvement I okay at all identified four heterocytes denove mutation of hris in 12 of 13 patients studied by them these have been previously reported as somatic and oncogenic mutations in various tumors the others noted that germline mutations in hris alter human development and increase susceptibility to tumors patients wi

th costly syndrome have a 15 percent lifetime risk of malignant tumors including rhabdomyosarcoma neuroblastoma and transitional cell carcinoma inheritance is in an autosomal dominant pattern cardiac involvement in Costless syndrome occurs in the form of hypertrophic cardiomapathy stenosis tachycardia children with costular Syndrome have failure to thrive short Stitcher developmental delay intellectual disability coarse facial features hypotonia and Joint laxity polyhydramnios often severe is an

important prenatal Association 90 percent as well as severe postnatal feeding difficulties

Costello Syndrome

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