What is Faciocutaneoskeletal Syndrome: Causes, Symptoms, Treatment

What is Faciocutaneoskeletal Syndrome?

Faciocutaneoskeletal Syndrome which is also known by the name of Costello Syndrome is a very rarefied morbid shape feign multiple reed organ of the body .

The primary features of this status is growth postponement after nativity along with short height as the child grows , and loose skin around the neck , palm of the hands , fingers , and soles of the feet .

Affected children with Faciocutaneoskeletal Syndrome also tend to have benignant tumors around the face and the rectal . Intellectual disability is also one of the primary features of Faciocutaneoskeletal Syndrome .

Hyperextensible joints of the fingers are also something which is seen in individuals with Faciocutaneoskeletal Syndrome . Individuals with Faciocutaneoskeletal Syndrome also be given to have heart defects in the kind of cardiomyopathy along with distinct facial features to let in macrocephaly , abnormally thick rim , and wide nostrils .

Such individuals also are at greater risk of exposure for developing malignant tumors later on in their lives . This condition cause by mutation in the HRAS gene come after an autosomal dominant practice of heritage meaning that one copy of the defective gene from either parent is enough for a child to germinate Faciocutaneoskeletal Syndrome .

What are the Causes of Faciocutaneoskeletal Syndrome?

As stated , the primary cause for Faciocutaneoskeletal Syndrome is chromosomal mutation in the HRAS factor and follows an autosomal dominant pattern of heritage . The mutant of the HRAS factor causes overproduction of the HRAS protein which conduct to abnormal and uninterrupted cell growth and class lead to the characteristic lineament of Faciocutaneoskeletal Syndrome .

What are the Symptoms of Faciocutaneoskeletal Syndrome?

The main presenting feature article of kid with Faciocutaneoskeletal Syndrome is a poor ability to suck and unsay difficulties . These children tend to grow fairly slowly when compared to normal small fry .

This delay in growing leads to them take in a short stature as they grow into adulthood . tiddler with Faciocutaneoskeletal Syndrome also have delays in attaining their developmental milestones and also have intellectual disability to some degree .

Such children also take more time in benefit oral presentation skill and their power to ambulate severally . Another primary feature of Faciocutaneoskeletal Syndrome is the presence of liberal skin around the fingers , decoration of the hands , and sole of the groundwork .

This is because of the lack of tolerable snap of the cutis due to Faciocutaneoskeletal Syndrome . There may also be crinkle of the pelt in these field along with hyperpigmentation of the skin where the skin may come along dark when compared to the skin color in other areas of the physical structure .

Hyperextensible joints are yet another main feature of Faciocutaneoskeletal Syndrome . The joints of the fingers and carpus are the most affected with this condition result in ulnar deviance . Scoliosisandkyphosisis also seen in small fry with Faciocutaneoskeletal Syndrome as they grow .

Children with Faciocutaneoskeletal Syndrome also tend to have an abnormally large head , a condition prognosticate as macrocephaly , low set ear , and abnormally thick lip as a result of Faciocutaneoskeletal Syndrome .

There are also certain ocular irregularity seen in tike with Faciocutaneoskeletal Syndrome and admit nystagmus and strabismus . Children with this condition also run to make grow pith defect in the form of hypertrophic cardiomyopathy as a termination of Faciocutaneoskeletal Syndrome .

How is Faciocutaneoskeletal Syndrome Diagnosed?

The diagnosis of Faciocutaneoskeletal Syndrome can be made by a thorough clinical rating of the affected role . The presenting features of the affected role are good enough to point towards a diagnosing of Faciocutaneoskeletal Syndrome . Additionally , a genetic testing may be deal which will clearly show a mutation in the HRAS factor reassert the diagnosing of Faciocutaneoskeletal Syndrome .

How is Faciocutaneoskeletal Syndrome Treated?

The intervention of Faciocutaneoskeletal Syndrome is basically diagnostic . It may call for immix try by a team of specialists to let in pediatricians , speech communication and language therapists , cardiologists , orthopedists , and skin doctor who can excogitate a intervention program well suit for the patient .

For treatment of the cardiac abnormalities namely hypertrophic cardiomyopathy , medications in the form of beta blocker may be prescribed which have been shown to be quite effective for patients with Faciocutaneoskeletal Syndrome .

Surgical intervention may be involve to do by other abnormalities such as that of the skin and other skeletal abnormalities such as loose hide and curvature of the spine . Speech and occupational therapy are extremely beneficial for tiddler with Faciocutaneoskeletal Syndrome who have speaking and get down difficulties as they can train them in speech and swallowing and make them as sovereign as potential .

It should be noted here that an early diagnosis of the condition with other intervention provides the best chances for a good issue of intervention of children with Faciocutaneoskeletal Syndrome .