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Care for Chopra-Amiel-Gordon Syndrome (CAGS)

Boston Children’s Hospital is home to the world’s first and only clinic dedicated specifically to individuals with Chopra-Amiel-Gordon Syndrome (CAGS) and their families.

At the CAGS Clinic, we provide expert care for this rare genetic condition, which is caused by changes in the ANKRD17 gene and affects brain and organ development, growth, and immune system function. We provide comprehensive evaluations and care plans tailored to each patient, using the latest research and clinical experience to support their growth, health, and overall well-being.

How we approach Chopra-Amiel-Gordon Syndrome

Our team is made up of specialists in genetics, neurology, nephrology, immunology, and other related fields, who work together to care for individuals with CAGS. This collaboration means patients and families benefit from coordinated, expert care all in one place.

We evaluate children who may have CAGS and create personalized care plans for those with a confirmed diagnosis. Our care plans are tailored to support the medical and developmental needs most often seen with CAGS, including:

Our services

Our specialized CAGS services are each designed to support for your child’s health and long-term development. They include:

  • Genetic counseling
  • Clinical genetics
  • Neurology services for management of seizures, muscle tone, and behavior
  • Immunology and infection prevention support
  • Kidney health evaluation and treatment
  • Referrals for speech, occupational, and physical therapy
  • Referrals for Individualized education planning and behavioral therapy
  • Access to international research studies

Research and innovation

Our team is involved in a natural history study to better understand CAGS and improve long-term care strategies. We also collaborate with teams around the world on cutting-edge research to advance the development of effective treatments and support for patients and their families.

Learn more about our current research.