Learn About Cornelia De Lange Syndrome
Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.
Cornelia de Lange syndrome can result from variants (also called mutations) in one of several genes. Variants in the NIPBL gene have been identified in more than half of all people with this condition. Variants in other genes, including SMC1A, HDAC8, RAD21, SMC3, and others, are much less common.
Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects 1 in 10,000 to 30,000 newborns. The condition is probably underdiagnosed because affected individuals with mild or uncommon features may never be recognized as having Cornelia de Lange syndrome.
When Cornelia de Lange syndrome is caused by variants in the NIPBL, RAD21, or SMC3 gene, the condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new gene variants and occur in people with no history of the condition in their family.
Cohen Children's Northwell Health Physician Partners Medical Genetics
Ian Krantz is a Medical Genetics provider in Great Neck, New York. Dr. Krantz is rated as an Elite provider by MediFind in the treatment of Cornelia De Lange Syndrome. His top areas of expertise are Cornelia De Lange Syndrome, Pallister-Killian Mosaic Syndrome, Mosaicism, and KBG Syndrome.
Matthew Deardorff is a Medical Genetics specialist and a Pediatrics provider in Los Angeles, California. Dr. Deardorff is rated as an Elite provider by MediFind in the treatment of Cornelia De Lange Syndrome. His top areas of expertise are Cornelia De Lange Syndrome, Coffin-Siris Syndrome, Mosaicism, and Beckwith-Wiedemann Syndrome.
Juan Pie practices in Zaragoza, Spain. Mr. Pie is rated as an Elite expert by MediFind in the treatment of Cornelia De Lange Syndrome. His top areas of expertise are Cornelia De Lange Syndrome, Mosaicism, Rubinstein-Taybi Syndrome, and Turner Syndrome.
Summary: The goals of this clinical trial are to identify factors associated with the development of problem behavior in Cornelia de Lange syndrome (CdLS) and to develop an effective behavioral assessment and treatment model for problem behavior in children with CdLS. The hypotheses are as follows: 1. Based on pilot data, the investigators hypothesize that individuals with CdLS will exhibit preferences for...
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: April 13, 2022
Published By: National Institutes of Health