Costello syndrome

Costello syndrome is a rare genetic disorder that affects multiple systems in the body and is caused by mutations in the HRAS gene. It is part of a group of conditions called RASopathies, which also includes Noonan syndrome and cardiofaciocutaneous (CFC) syndrome.

Key Characteristics:

• Distinctive facial features: Coarse facial features, full lips, large mouth, low-set ears, and nasal papillomas (wart-like growths).
• Skin and hair issues: Loose or soft skin, deep palmar and plantar creases, sparse or curly hair.
• Developmental delays: Intellectual disability and delayed motor skills (such as sitting, standing, or walking).
• Growth problems: Poor feeding in infancy, short stature, and failure to thrive.
• Heart defects: Hypertrophic cardiomyopathy, arrhythmias, and other congenital heart defects.
• Orthopedic issues: Tight Achilles tendons, scoliosis, and joint laxity.
• Increased cancer risk: Higher chance of developing certain tumors, such as rhabdomyosarcoma, neuroblastoma, and bladder cancer.

Cause:

• Mutations in the HRAS gene, which provides instructions for making a protein that helps control cell division. These mutations lead to abnormal cell growth and development.

Diagnosis:

• Clinical evaluation based on physical features and symptoms.
• Genetic testing to confirm HRAS mutation.

Management:

• No cure, but treatment focuses on managing symptoms.
• Requires a multidisciplinary team: cardiologists, endocrinologists, developmental therapists, orthopedists, and oncologists.
• Regular monitoring for heart function, growth, development, and tumor screening.

Let me know if you’d like more detail on a specific aspect like genetics, life expectancy, or treatment plans.