Costello syndrome
Costello Syndrome
Costello Syndrome (pronounced kuh-STEL-oh SIN-drohm) is a rare genetic disorder that affects multiple organ systems in the body. It is characterized by delayed development and intellectual disability, distinctive facial features, loose folds of extra skin, and unusually flexible joints.
Etymology
The syndrome is named after American pediatrician Jack Costello, who first described it in 1971.
Symptoms
The symptoms of Costello Syndrome can vary greatly from one person to another. Some of the most common symptoms include:
- Facial Dysmorphism: Distinctive facial features such as a large mouth, full lips, and wide-set eyes.
- Cardiovascular Disease: Heart problems, including an increased risk of cardiomyopathy and arrhythmia.
- Developmental Delay: Delayed development and intellectual disability are common.
- Skin Abnormalities: Loose folds of extra skin, especially on the hands and feet.
- Joint Laxity: Unusually flexible joints, which can lead to problems with movement and coordination.
Causes
Costello Syndrome is caused by mutations in the HRAS gene. This gene provides instructions for making a protein that helps control cell growth and division. Mutations in the HRAS gene lead to the production of an HRAS protein that is permanently active, which promotes unchecked cell division and leads to the signs and symptoms of Costello Syndrome.
Diagnosis
Diagnosis of Costello Syndrome is based on clinical features and confirmed by genetic testing to identify a mutation in the HRAS gene.
Treatment
There is currently no cure for Costello Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, educational services, and treatments for specific symptoms such as heart problems or skin abnormalities.
See Also
External links
- Medical encyclopedia article on Costello syndrome
- Wikipedia's article - Costello syndrome
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