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Genetic and Rare Diseases Information Center (GARD)

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Nicolaides-Baraitser syndrome


Other Names for this Disease
  • Intellectual disability - sparse hair - brachydactyly
  • NCBRS
  • Nicolaides Baraitser syndrome
  • Sparse hair and mental retardation
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Overview

Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Signs and symptoms may include seizures, short stature, sparse hair, distinctive facial characteristics, short fingers and toes (brachydactyly), and prominent joints in the fingers and toes (interphalangeal joints). Features of the condition can worsen over time. NCBRS is caused by changes (mutations) in the SMARCA2 gene and is inherited in an autosomal dominant manner. All cases reported to date have been sporadic, occurring in people with no family history of NCBRS.[1]
Last updated: 5/13/2015

References

  1. Sousa SB, Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Phenotype and genotype in Nicolaides-Baraitser syndrome. Am J Med Genet C Semin Med Genet. September, 2014; 166C(3):302-314.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Nicolaides-Baraitser syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Intellectual disability - sparse hair - brachydactyly
  • NCBRS
  • Nicolaides Baraitser syndrome
  • Sparse hair and mental retardation
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.