Costello Syndrome: A Rare Genetic Condition

Overview

Costello syndrome is a rare genetic disorder that affects multiple organs of the body. It is caused by mutations in the HRAS gene, which encodes a protein that is involved in cell growth and division.

Symptoms

The symptoms of Costello syndrome can vary, but may include:

• Developmental delay
• Intellectual disability
• Characteristic facial features, such as coarse facial features, a prominent forehead, and thick eyebrows
• Skeletal abnormalities, such as short stature, scoliosis, and joint problems
• Heart defects
• Gastrointestinal problems, such as feeding difficulties and constipation
• Kidney problems
• Skin problems, such as dry skin and eczema

Diagnosis

Costello syndrome is diagnosed based on a physical exam, a review of the patient's medical history, and genetic testing.

Treatment

There is no cure for Costello syndrome, but treatment can help to manage the symptoms. Treatment may include:

• Early intervention services to help with developmental delays
• Special education services
• Medications to manage heart defects
• Surgery to correct skeletal abnormalities
• Dietary changes to manage gastrointestinal problems

Outlook

The prognosis for Costello syndrome varies. Some individuals with Costello syndrome have mild symptoms and live relatively normal lives. Others have more severe symptoms and may require lifelong medical care.

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