Learn About Nicolaides-Baraitser Syndrome

What is the definition of 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.

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What are the causes of Nicolaides-Baraitser Syndrome?

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.

How prevalent is Nicolaides-Baraitser Syndrome?

Nicolaides-Baraitser syndrome is likely a rare condition; approximately 75 cases have been reported in the scientific literature.

Is Nicolaides-Baraitser Syndrome an inherited disorder?

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.

Who are the top Nicolaides-Baraitser Syndrome Local Doctors?
Distinguished
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18
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University Of Siena

Siena, IT 

Francesca Mari is in Siena, Italy. Mari is rated as a Distinguished expert by MediFind in the treatment of Nicolaides-Baraitser Syndrome. She is also highly rated in 18 other conditions, according to our data. Her top areas of expertise are Nicolaides-Baraitser Syndrome, Rett Syndrome, Alport Syndrome, and Acheiropody.

Distinguished
Highly rated in
30
conditions

Osservatorio Malattie Rare (OMAR)

IT 

Alessandra Renieri is in Italy. Renieri is rated as a Distinguished expert by MediFind in the treatment of Nicolaides-Baraitser Syndrome. She is also highly rated in 30 other conditions, according to our data. Her top areas of expertise are Nicolaides-Baraitser Syndrome, Rett Syndrome, FOXG1 Syndrome, and Alport Syndrome.

 
 
 
 
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University Of Amsterdam

Endocrine Laboratory, Amsterdam Gastroenterology, Endocrinology & Metabolism 
Amsterdam, NH, NL 

Raoul Hennekam is in Amsterdam, Netherlands. Hennekam is rated as a Distinguished expert by MediFind in the treatment of Nicolaides-Baraitser Syndrome. He is also highly rated in 106 other conditions, according to our data. His top areas of expertise are Marshall-Smith Syndrome, Nicolaides-Baraitser Syndrome, Rubinstein-Taybi Syndrome, and Otopalatodigital Syndrome Type 1.

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Who are the sources who wrote this article ?

Published Date:updated Last, December

Published By: National Institutes of Health

What are the Latest Advances for Nicolaides-Baraitser Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.