Thursday, October 20, 2016

Costello Syndrome

(Image Retrieved from here)

According to the U.S. National Library of Medicine, Costello syndrome is "characterized by delayed development and intellectual disability, loose folds of skin which are most noticeable on hands and feet, flexible joints, and distinctive facial features."

Picture retrieved from here

Common characteristics associated with Costello syndrome: heart problems such as arrhythmia, structural heart defects, hypertrophic cardiomyopathy which is a heart disease that enlarges and weakens the heart muscle, difficulty feeding, shortened height, reduced growth hormone levels, hypotonia, skeletal abnormalities, and dental and vision difficulties. NORD states that people with this syndrome develop dry hardened patches of skin with deep creases on the palms of their hands and soles of their feet. NORD also describes their facial features: large head, thick ear lobes, thick lips, wide nostrils, and sometimes unusually curly hair and/or sparse, thin hair on the front of their head.
According to the National Organization for Rare Disorders (NORD), infants with Costello syndrome have a normal or high birth weight but then exhibit failure to thrive which poor sucking abilities and swallowing difficulties. 

In early childhood, children with Costello syndrome are at a higher risk for developing specific cancerous (e.g. rhabdomyosarcoma beginning in muscle tissue) and noncancerous tumors (e.g. papillomas). According to NIH, it is difficult to distinguish Costello Syndrome based on physical features since it overlaps with two other genetic syndromes: cardiofaciocutaneous syndrome and Noonan syndrome. 

Costello Syndrome is caused by mutations in the HRAS gene which provides instructions for making protein H-Ras which is a piece of the puzzle that helps control cell growth and division. H-Ras becomes active and directs cells to grow and divide constantly, which can lead to the tumors. It is, at this time, unclear how the other features of Costello syndrome are developed. Cases are usually a result from new gene mutations and not from a family history. 

For more information: visit Costello Syndrome and GeneReviews.

Occupational Therapy Role:
-Bracing for hands/wrists
-Feeding skills
-Visuomotor integration to engage in activities
-Hand strengthening
-Fine motor skills
-Promoting engagement in ADL's and IADL's as much as possible! 

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