Costello syndrome also referred to as faciocutaneoskeletal syndrome or FCS syndrome, is an uncommon genetic illness which affects several areas of the human body. It’s characterized by d delayed mental progression, and postponed mental development, distinctive facial features, remarkably flexible joints, and loose folds of extra skin, particularly on the palms and feet.:571 Heartabnormalities are frequent, such as an extremely fast heartbeat (tachycardia), structural heart flaws, and overgrowth of those heart muscle (hypertrophic cardiomyopathy). Babies with Costello might be substantial at birth, but develop more slowly than other kids and have trouble swallowing. Later in life, most individuals with this illness have comparatively short stature and several have reduced degrees of development hormones. It’s a RASopathy.
Starting in early childhood, individuals with Costello syndrome have a higher chance of developing specific cancerous and noncancerous tumors. Small growths known as papillomas are the most common noncancerous tumors found with this illness. They often grow around the mouth and nose or close to the anus. The most typical cancerous tumor connected with Costello syndrome is a delicate tissue tumor known as a rhabdomyosarcoma. Other cancers have also been reported in children and teenagers with this disease, such as a tumor which originates in creating nerve cells (neuroblastoma) plus a type of bladder cancer (transitional cell carcinoma).
Treatments for Costello Syndrome
In the 2005 American Society of Human Genetics Assembly, Francis Collins gave a Demonstration about a Remedy he Invented for Kids affected by Progeria.
He discussed how farnesyltransferase inhibitor (FTI) influences H-Ras. Following his demonstration, members of this Costello Syndrome Family Network discussed the possibility of FTIs helping kids with Costello syndrome. Mark Kieran, who introduced in the 1st International Costello Syndrome Research Symposium in 2007, consented that FTIs may help kids with Costello syndrome. He spoke with Costello recommends what he’d discovered in establishing and directing the Progeria clinical trial using an FTI, to assist them consider following steps.
Another medicine which affects H-Ras is Lovastatin, which can be intended as a remedy for neurofibromatosis type I. Research into the effects of Lovastatin was connected with Alcino Silva, who presented his findings in the 2007 symposium. Silva also thought that the medicine he was analyzing could help kids with Costello syndrome using cognition.
A third medicine that may help kids with Costello syndrome is a MEK inhibitor which will help inhibit the pathway nearer into the cell nucleus.
