Costello Syndrome

I have read about many syndromes such as Down, Prader-Willi and Williams but there are quite a few that does not seem to gain a lot of attention from the media. One of those syndromes is Costello Syndrome.

Costello Syndrome is a disability that physically affects the body such as loose skin, distinctive facial characteristics such as large mouth and flexible joints that are not considered normal. Heart defects are also common as well which includes an abnormal heart beat. By adulthood, people with Costello Syndrome also have shorter stature than average.

Additionally, delayed development and intellectual disability are prevalent with Costello Syndrome.It can range from mild to severe. This may be caused by the mutation in chromosome 11. Although the mutation can be inherited from a parent, it is not likely that healthy siblings will be affected by the syndrome or the future generations.

Unlike other syndromes, people with Costello Syndrome are at risk of developing cancers such as Rhabdomyosarcoma and a certain cell carcinoma which is a type of bladder cancer. However, there are many people with Costello Syndrome that do not develop cancer but can also develop wartlike skin growth. Similar to cancer cases, some may never endure wartlike skin growth.

Although I have given you a brief description about Costello Syndrome, this website is very detailed if you would like to learn more:
http://costellokids.com/sites/default/files/Costello_Syndrome-GeneReviews-NCBI%20Bookshelf_0.pdf

Until next time,
Laura xx