About Costello Syndrome

What is Costello Syndrome?

Costello Syndrome is a rare genetic disorder that is characterized by distinctive facial features, growth delays, and an increased risk of certain types of cancer. It is caused by a mutation in the HRAS gene. Symptoms can include thick, loose skin, short stature, heart defects, and developmental delays.

What are the symptoms of Costello Syndrome?

The most common symptoms of Costello Syndrome include:

-Delayed growth and development
-Intellectual disability
-Feeding difficulties
-Heart defects
-Frequent respiratory infections
-Facial features such as a large forehead, deep-set eyes, and a wide mouth
-Loose, soft, and velvety skin
-Flexible joints
-Short stature
-Delayed puberty
-Hearing loss
-Vision problems
-Kidney abnormalities
-Gastrointestinal problems

What are the causes of Costello Syndrome?

Costello Syndrome is a rare genetic disorder caused by a mutation in the HRAS gene. The mutation is usually inherited from a parent, but can also occur spontaneously. It is believed that the mutation affects the way cells grow and divide, leading to the physical and developmental features of the syndrome.

What are the treatments for Costello Syndrome?

The treatments for Costello Syndrome vary depending on the individual and the severity of the condition. Generally, treatments focus on managing the symptoms and complications associated with the syndrome. These may include physical therapy, occupational therapy, speech therapy, and medications to help with pain, muscle spasms, and other symptoms. Surgery may be necessary to correct certain physical abnormalities. Additionally, genetic counseling and psychological support may be beneficial for individuals and families affected by Costello Syndrome.

What are the risk factors for Costello Syndrome?

The exact cause of Costello Syndrome is unknown, but it is believed to be caused by a mutation in the HRAS gene. Other risk factors for Costello Syndrome include a family history of the disorder, advanced maternal age, and a history of consanguinity (marriage between close relatives).

Is there a cure/medications for Costello Syndrome?

At this time, there is no cure for Costello Syndrome. However, there are medications and treatments available to help manage the symptoms. These include medications to help with heart problems, physical and occupational therapy to help with motor skills, and speech therapy to help with communication. Additionally, there are medications available to help with growth and development, as well as medications to help with skin problems.