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
Dr. Ian Daniel Krantz, MD, is a renowned physician specializing in Genetics and Pediatrics. He currently sees patients at Cohen Children's Medical Center (CCMC) and Northwell Health Physician Partners Medical Genetics. Dr. Krantz holds certifications in Clinical Genetics, Cytogenetics, and Pediatrics from the American Board of Medical Genetics and the American Board of Pediatrics, respectively.Dr. Krantz completed his BFA at Concordia University in Montreal and his MD at Sackler School of Medicine (Tel Aviv University). He completed his residency in Medical Genetics at Children's Hospital of Philadelphia and his residency in Pediatrics at New York University Medical Center.With an impressive set of academic and administrative titles, Dr. Krantz serves as the Division Chief of Pediatric Genetics and Genomics at Cohen Children's Medical Center and is the System Vice President for Pediatric Genetics at Northwell Health. Additionally, he holds the position of Professor at the Zucker School of Medicine at Northwell Health.Dr. Krantz is recognized for his clinical expertise in isolated and syndromic forms of congenital birth differences and developmental diagnoses, including syndromic and non-syndromic autism. He has a special interest in the genetics of hearing loss and focused expertise in Cornelia de Lange Syndrome, Pallister-Killian syndrome, Alagille syndrome, CHOPS syndrome, among others.Dr. Krantz's research is dedicated to identifying and characterizing the molecular etiology of syndromic and non-syndromic developmental diagnoses. His research lab has made significant contributions in the field, discovering new disease genes and shedding light on critical molecular pathways involved in human developmental disorders.Driven by his commitment to advancing patient care, Dr. Krantz has been at the forefront of integrating genomic technologies into the clinical setting. He has implemented rapid genome sequencing into the NICU and CICU and established biobanks and biorepositories to further research efforts. Through his work, he aims to understand the impact of complex diagnostic information on clinicians and families involved.With his extensive expertise and dedication to advancing genetic research and patient care, Dr. Krantz continues to make significant contributions to the field of Pediatrics and Genetics. 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