Is Costello Syndrome fatal?
Is Costello Syndrome fatal?
Costello syndrome causes problems that affect the heart, muscles, bones, skin, brain, and spinal cord. There’s no cure for the condition, but doctors can help kids manage most symptoms.
What causes Costello Syndrome?
Mutations in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division . Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active).
What is Costello’s?
Costello syndrome is a rare, genetic disorder that involves delayed physical and mental development. It affects various parts of the body and is characterized by loose folds of skin, poor muscle tone and other problems.
Who discovered Costello Syndrome?
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.
How many people in the world have Costello syndrome?
Affected Populations Costello syndrome is a very rare disorder that affects males and females in relatively equal numbers. Approximately 350 affected individuals have been reported worldwide.
How is Costello Syndrome diagnosed?
Costello syndrome is diagnosed by clinical examination and specific diagnostic criteria have been developed. Molecular genetic testing for mutations in the HRAS gene is available to confirm the diagnosis. Most clinically affected individuals have an identifiable HRAS mutation.
What does Costello Medical do?
Due to the demand across an increasing range of service offerings and geographies, Costello Medical has grown organically since foundation in 2008 to become one of the most established independent agencies delivering medical communications and health economic services.
What is medical communication?
Medical communication is the development and production of materials that deal specifically with medicine or health care. Professional medical communicators have communication expertise, awareness of ethical standards, and health care knowledge.
What are the signs and symptoms of Costello syndrome?
Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Affected people may also have heart abnormalities such as tachycardia, structural heart defects, and hypertrophic cardiomyopathy.
When does devlelop papillomata develop in Costello syndrome?
Children with Costello syndrome usually devlelop papillomata around the mouth and nostrils. Papillomata may develop as early as two years of age or at older ages. In some cases, these wart-like (verrucal) lesions may be found near the anus. Papillomata usually become more apparent with age.
How are Noonan syndrome and Costello syndrome related?
In some cases, the symptoms and findings of Costello syndrome overlap with two similar disorders known as Noonan syndrome and cardiofaciocutaneous syndrome which are caused by mutations in different genes.
What kind of treatment do you get for Costello syndrome?
For those with heart issues, treatment is similar to people who have the same heart defect but do not have Costello syndrome. For those with delayed development, early treatments may include physical, occupational, and/or speech therapy.