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.
University Of Arkansas For Medical Sciences
Gerald Schaefer is a Medical Genetics specialist and a Pediatric Endocrinologist in Little Rock, Arkansas. Dr. Schaefer and is rated as an Experienced provider by MediFind in the treatment of Cornelia De Lange Syndrome. His top areas of expertise are Tetrasomy X, Hypotonia, Cortical Dysplasia, and Increased Head Circumference. Dr. Schaefer is currently accepting new patients.
Adam Maass is an Endocrinologist in Springdale, Arkansas. Dr. Maass and is rated as an Advanced provider by MediFind in the treatment of Cornelia De Lange Syndrome. His top areas of expertise are Secondary Adrenal Insufficiency, Addison's Disease, Triple A Syndrome, and Rapadilino Syndrome.
Washington Regional Medical System
Allison Johnson is an Internal Medicine provider in Springdale, Arkansas. Dr. Johnson and is rated as an Advanced provider by MediFind in the treatment of Cornelia De Lange Syndrome. Her top areas of expertise are Winchester Syndrome, Dubowitz Syndrome, Russell-Silver Dwarfism, and SHORT Syndrome.
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...
Summary: Purpose: Conduct a wait-list randomized controlled trial (RCT) of an inclusive physical activity program called PACE for adults with intellectual disability (ID) who are not yet showing signs of Alzheimer's Disease (AD)/age-related dementias (ARD). Participants: Participants include 120 adults with ID, their caregivers, and their coaches (up to 360 individual participants, grouped as triads), recr...
Published Date: April 13, 2022
Published By: National Institutes of Health