Cornelia De Lange Syndrome Overview
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.
North Shore-Lij Medical PC
Ian Krantz is a Medical Genetics specialist and a Pediatrics 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.
Frank Kaiser practices in Luebeck, Germany. Mr. Kaiser 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, Focal Dystonia, KBG Syndrome, and Drug Induced Dyskinesia.
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...
Summary: The study Cornelia de Lange Syndrome: assessing positive effects of Lithium treatment - CLoSER aims to evaluate the effectiveness on behavioral modifications of lithium carbonate therapy in patients with Cornelia de Lange syndrome (CdLS). CdLS is a rare genetic disease caused by autosomal mutations dominant or X-linked. The prevalence of CdLS is estimated to be between 1:10,000-30,000 newborns, bu...
Published Date: April 13, 2022
Published By: National Institutes of Health