Cornelia de Lange Syndrome and Related Disorders Clinic

The Cornelia de Lange Syndrome and Related Disorders Clinic at Boston Children’s Hospital cares for children with Cornelia de Lange syndrome (CdLS), a rare genetic disorder caused by mutations in one of five specific genes. The clinic also treats children who do not have CdLS but who have a mutation in one of the five genes or a broader group of genes listed below:

Cornelia de Lange syndrome genes

  • NIPBL
  • SMC1A
  • SMC3
  • RAD21
  • HDAC8

Other CdLS genes

  • BRD4
  • MAU2
  • WAPL
  • ANKRD11
  • KMT2A
  • TAF6
  • AFF4
  • TAF1
  • NAA10
  • EP300
  • CREBBP

Some of these disorders are called “cohesinopathies,” as they are caused by mutations in a group of “cohesin” genes involved with development.

Children with CdLS can have moderate to severe gastrointestinal, neurological, and developmental issues. CdLS is a congenital condition, meaning it is present at birth, and can affect growth and development.

Our depth of experience in Cornelia de Lange syndrome

Our clinicians in the Cornelia de Lange Syndrome and Related Disorders Clinic have much experience caring for children with CdLS and other rare genetic disorders. CdLS is a multifaceted condition, and our goal is to provide carefully coordinated multispecialty care to serve the needs of our families. Our core specialists are in genetics, neurology, and gastroenterology, but we collaborate with experts across Boston Children’s to provide comprehensive care.

Why choose the Cornelia de Lange Syndrome and Related Disorders Clinic?

When you choose the Cornelia de Lange Syndrome and Related Disorders Clinic at Boston Children’s, your child will receive care from experienced clinicians who specialize in caring for children with this rare genetic condition. Our team includes geneticists, neurologists, gastroenterologists, and other specialists who are leaders in treatment and research. We are helping to train the next generation of CdLS experts and also offer educational opportunities to our families.