Costello Syndrome
Description
Costello syndrome is a rare genetic disorder characterized by distinctive physical features, developmental delays, and an increased risk of certain medical conditions. It‘s caused by mutations in the HRAS gene, affecting cell growth and development. This blog delves into the intricacies of Costello syndrome, covering its symptoms, causes, diagnosis, management strategies, and the potential for thriving with this condition.
Genes Involved
Costello syndrome is caused by mutations in the HRAS gene, located on chromosome 11. The HRAS gene plays a crucial role in cell growth and development. Mutations in this gene disrupt these processes, leading to the characteristic features of Costello syndrome.
Recognizing the Signs and Symptoms
Costello syndrome presents a range of symptoms, including:
- Distinctive Facial Features: Prominent forehead, wide-set eyes, a small jaw, and a broad nasal bridge.
- Growth Abnormalities: Short stature, delayed bone growth, and increased risk of scoliosis (curvature of the spine).
- Heart Defects: Congenital heart defects, such as heart murmurs, are common.
- Developmental Delays: Delayed motor skills, speech development, and cognitive abilities.
- Intellectual Disability: A wide range of intellectual abilities, from mild to moderate intellectual disability.
- Skin Abnormalities: Loose skin, especially around the neck and abdomen.
- Other Features: Large hands and feet, and an increased risk of tumors (particularly in infancy and childhood).
Causes
Costello syndrome is a genetic disorder caused by mutations in the HRAS gene. These mutations are typically inherited from a parent, although in some cases, they can occur spontaneously.
Inheritance/recurrence risk
Costello syndrome is typically inherited in an autosomal dominant pattern. This means that if one parent carries the mutated HRAS gene, there is a 50% chance of passing it on to their child. However, spontaneous mutations can also occur, meaning the condition may appear in a child without a family history of Costello syndrome. If a child has Costello syndrome, there is a 50% chance that their children will inherit the condition.
