This page is dedicated to the Cornelia de Lange Syndrome and Related Disorders research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

The Cornelia de Lange Syndrome (CdLS) and Related Disorders research study, was established at Boston Children’s in 2022 and is led by Dr. Philip Boone, with the following goals: Establish a sample,  genomic, and clinical data repository for patients with CdLS and related disorders; find causal mutations; and find new disorders related to CdLS.

Disease information

Cornelia de Lange syndrome (CdLS) is a rare genetic condition that affects growth and development. Children with CdLS often have neurobehavioral features, small size, gastrointestinal problems, distinctive facial features, and may have organ or limb malformations. There are a number of conditions with related molecular defects: other cohesinopathies, disorders of transcriptional regulation, and additional conditions within the broader class of disorders of genome organization. Learn more about CdLS.

Key outcomes

Dr. Boone and his team have now identified several novel disorders.

Genes of interest

AFF4 ANKRD11 BRD4 CREBBP EP300 HDAC8 KMT2A MAU2 NAA10 NIPBL RAD21 SMC1A SMC3 TAF1 TAF6 WAPL 

Participate in research

Physicians may refer their patients with diagnoses of CdLS or other disorder of genome organization (variant in a gene encoding a genome-organizing protein) to Dr. Boone. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them.

Patient care

Patients and their families with CdLS (diagnosed or suspected) or a related condition (e.g. other cohesinopathy) can be seen by an expert multidisciplinary team in the Cornelia de Lange Syndrome and Related Disorders Clinic at Boston Children’s. Learn more about CdLS.

Investigator

Philip Boone, MD, PhD

Divisions

Notable publications by investigator

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features 

Disease support organizations

CdLS Foundation

The Cornelia de Lange Syndrome (CdLS) Foundation provides a host of services for anyone affected by this genetic condition.

STAG1 Gene Foundation

The STAG1 Gene Foundation seeks to bring together patients and families affected with STAG1 syndrome (Intellectual developmental disorder, autosomal dominant 47) 

Trusted sites