Costello Syndrome

Costello syndrome, also called faciocutaneoskeletal syndrome or FCS syndrome, is a rare genetic disorder that affects many parts of the body. It is characterized by delayed development and mental retardation, distinctive facial features, unusually flexible joints, and loose folds of extra skin, especially on the hands and feet. Heart abnormalities are common, including a very fast heartbeat (tachycardia), structural heart defects, and overgrowth of the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome may be large at birth, but grow more slowly than other children and have difficulty feeding. Later in life, people with this condition have relatively short stature and many have reduced levels of growth hormones. It is a RASopathy.

Beginning in early childhood, people with Costello syndrome have an increased risk of developing certain cancerous and noncancerous tumors. Small growths called papillomas are the most common noncancerous tumors seen with this condition. They usually develop around the nose and mouth or near the anus. The most frequent cancerous tumor associated with Costello syndrome is a soft tissue tumor called a rhabdomyosarcoma. Other cancers also have been reported in children and adolescents with this disorder, including a tumor that arises in developing nerve cells (neuroblastoma) and a form of bladder cancer (transitional cell carcinoma).

Costello Syndrome was discovered by Dr Jack Costello, a New Zealand Paediatrician in 1977. He is credited with first reporting the syndrome in the Australian Paediatric Journal, Volume 13, No.2 in 1977.

Read more about Costello SyndromeGenetics, Historical Significance, Possible Treatments

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HRAS - Clinical Significance - Costello Syndrome
... gene have been identified in people with Costello syndrome ... The mutations responsible for Costello syndrome lead to the production of an HRAS protein that is permanently active ...
Costello Syndrome - Possible Treatments - Next Steps
... believe there are only enough children with Costello syndrome to test one medication at a time effectively ... Spanish researchers reported the development of a Costello mouse, with the G12V mutation, in early 2008 ... Although the G12V mutation is rare among children with Costello syndrome, and the G12V mouse does not appear to develop tumors as expected, information about the mouse model's ...

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