🧬 Genetic Disorder

Costello Syndrome

Also known as: RASopathy, Facio-cardio-cutaneous syndrome

Costello syndrome is a rare genetic disorder characterized by developmental delays, intellectual disability, distinctive facial features, cardiac abnormalities, skin and musculoskeletal problems, and an increased risk of certain cancers. It is caused by mutations in the HRAS gene, which plays a role in cell growth and division.

ICD-10: Q87.8 Orphanet: 2016 OMIM: 218040
👥 Estimated 1 in 300,000 to 1 in 1,250,000 live births Prevalence
🔬 15 Active Trials

Costello Syndrome is a rare problem kids are born with. It makes them look a little different, learn slower, and sometimes have heart problems. Doctors help them grow and stay healthy.

Signs & Symptoms

  • Distinctive facial features (coarse face, full lips, large mouth)
  • Developmental delay
  • Intellectual disability
  • Cardiac abnormalities (hypertrophic cardiomyopathy, arrhythmia)
  • Skin abnormalities (papillomata, loose skin)
  • Musculoskeletal problems (joint laxity, short stature)
  • Increased risk of tumors (rhabdomyosarcoma, neuroblastoma)
  • Feeding difficulties
  • Hypotonia
  • Curly or sparse hair

Treatment Options

MEDICATION FDA Approved

Cardiac Management (e.g., Beta-blockers, ACE inhibitors)

MODERATELY EFFECTIVE
SURGERY FDA Approved

Surgical Intervention (for cardiac defects or papillomata)

HIGHLY EFFECTIVE
MEDICATION FDA Approved

Growth Hormone Therapy

MODERATELY EFFECTIVE
THERAPY

Developmental Therapies (Physical, Occupational, Speech)

SUPPORTIVE
SUPPORTIVE

Tumor Surveillance and Management

SUPPORTIVE
SUPPORTIVE

Nutritional Support

SUPPORTIVE

Diagnosis

  • Clinical evaluation
  • Genetic testing (HRAS gene sequencing)
  • Echocardiogram
  • Electrocardiogram (ECG)
  • Radiological studies
  • Developmental assessment

History

Costello syndrome was first described by Dr. John Costello in 1977. The genetic basis of the syndrome, mutations in the HRAS gene, was identified in 2004.

Recent Breakthroughs

2022

Identification of Novel HRAS Mutation Modifiers

Research has identified genetic modifiers that influence the severity of Costello syndrome phenotypes, offering potential targets for future therapies.

2023

Improved Cardiac Management Strategies

Advances in cardiac imaging and medical management have improved outcomes for individuals with hypertrophic cardiomyopathy associated with Costello syndrome.