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What is Costello Syndrome?

Costello Syndrome is a rarefied genetic abnormality which affects multiple life-sustaining organs of the organic structure . Costello Syndrome causes postponement in growing of the child as seen by light stature along with loose tegument around the neck , palms , fingers , and sol of the feet . There is also growing of noncancerous tumors in the facial nerve and the anal retentive area . A youngster with Costello Syndrome will have substantial holdup in achieve developmental milestones and often at metre have intellectual limitations.[1 ]

mass with Costello Syndrome go on to have characteristic facial feature and extremely hard skin on the hands and feet . Their joints are also extremely pliable . citizenry with this status also have limited cognitive power with also incidences ofcardiomyopathy.[1 ]

Some of the other characteristic characteristic of mass with Costello Syndrome include abnormally large chief , abnormally thick lips , and widenostrils . People with Costello Syndrome are always at an increased risk for developing cancer . The factor responsible for causing Costello Syndrome is the HRAS gene and this is an autosomal rife trait.[1 ]

What Causes Costello Syndrome?

As stated , Costello Syndrome is because of mutation in the HRAS gene . The function of this gene is to make proteins creditworthy for cell section and growth . This unnatural mutation of the HRAS gene results in the cell to grow and divide unceasingly whether or not the gene instructs them to do so . This leave in the development of both benign and malignant tumors.[2 ]

The unnatural sport of the HRAS gene also interferes with the production of the elastic fibers in the tissues of the body . These elastic fibers are necessary for normal performance of various vital organs of the eubstance like the lungs . They are also significant to keep the tegument supple and also represent an important role in the functioning of bombastic blood vessels like the aorta.[2 ]

As stated , Costello Syndrome is an autosomal prevailing condition imply that only one copy of the defective gene is enough for an individual to get this condition . However , majority of the case of Costello Syndrome affect young mutations and go on in people who have no family history of such condition.[2 ]

What are the Symptoms of Costello Syndrome?

Majority of the symptoms of Costello Syndrome can be visualized at the time of birthing but in some cases they start to seem as the child develop . There is no effect on the birth weight of a child affect with Costello Syndrome but there is definitely a developmental delay compared to other nestling of the same age.[2 ]

Other symptom of Costello Syndrome includeshort height . The child will have significant limitations in intellectual ability . Children with Costello Syndrome will have pregnant delay in strain their developmental milestones.[2 ]

As infants , it will be quite difficult to feed them . They have an abnormally bombastic foreland and their pelt is extremely loose , specifically around the neck , palms of the hands , and colloidal solution of the feet . They have low set ear and hyperextensibility of the joints . Abnormal heart musical rhythm is also one of the feature article of people with Costello Syndrome.[2 ]

How is Costello Syndrome Diagnosed?

Costello Syndrome is so rare that not many MD would even suspect that to be the grounds of the symptoms at the first visit . However , to arrive at a diagnosis , the history of the child will be ask in full term of birth weight and check the size of the head . If the physician suspect Costello Syndrome at play then a molecular testing will be place to check for the mutation of the HRAS factor . The mental test will verify whether the patient does indeed have Costello Syndrome.[2 ]

How is Costello Syndrome Treated?

As of now , there is no cure for Costello Syndrome and treatment is completely symptomatic and aimed at correcting some of the correctible deformities . Treatment is also given for abnormalities of the marrow like cardiomyopathy . Aside from that , some of the ways to assist manage Costello Syndrome admit try on to help a nipper deal with feeding job . Children with Costello Syndrome take limited training due to their limited cognitive ability . They also require physical therapy for hyperextensible joints.[2 ]

Since patients with this condition often have a looseAchilles tendon , this can be tightened surgically . villoma that develop due to Costello Syndrome can be treated withcryotherapy . There is very limited data point as to the prognosis or life anticipation of a person with Costello Syndrome . However , some datum suggests that fatality generally occurs due to a tortuousness assort with this condition , specifically cardiovascular problems.[2 ]

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