Learn About Nicolaides-Baraitser Syndrome
Nicolaides-Baraitser syndrome is a condition that affects many body systems. Affected individuals can have a wide variety of signs and symptoms, but the most common are sparse scalp hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (brachydactyly), recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development.
Nicolaides-Baraitser syndrome is caused by mutations in the SMARCA2 gene. This gene provides instructions for making one piece (subunit) of a group of similar protein complexes known as SWI/SNF complexes. These complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and proteins that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed. To provide energy for chromatin remodeling, the SMARCA2 protein uses a molecule called ATP.
Nicolaides-Baraitser syndrome is likely a rare condition; approximately 75 cases have been reported in the scientific literature.
Nicolaides-Baraitser syndrome follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Raoul Hennekam practices in Amsterdam, Netherlands. Mr. Hennekam is rated as an Elite expert by MediFind in the treatment of Nicolaides-Baraitser Syndrome. His top areas of expertise are Nicolaides-Baraitser Syndrome, Marshall-Smith Syndrome, Micrognathia, and Trichorhinophalangeal Syndrome Type 2.
Wk Hematology Oncology Associates
Joyce Feagin is a Hematologist Oncology specialist and a Hematologist in Shreveport, Louisiana. Dr. Feagin is rated as an Advanced provider by MediFind in the treatment of Nicolaides-Baraitser Syndrome. Her top areas of expertise are Inflammatory Breast Cancer, Colorectal Cancer, Familial Colorectal Cancer, and Paget Disease of the Breast. Dr. Feagin is currently accepting new patients.
Viaro Professional Arts Ltd Health Care
Cheng Her is a primary care provider, practicing in Family Medicine in La Crosse, Wisconsin. Dr. Her is rated as an Experienced provider by MediFind in the treatment of Nicolaides-Baraitser Syndrome. His top areas of expertise are Cerebral Palsy, Char Syndrome, Vici Syndrome, and Cohen Syndrome.
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: December 01, 2015
Published By: National Institutes of Health