Other Names for this Disease
- Sparse hair and mental retardation
- Intellectual disability - sparse hair - brachydactyly
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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.Nicolaides-Baraitser syndrome (NCBRS) is a very rare condition characterized by severe intellectual disability and various physical features. Signs and symptoms may include
Last updated: 5/13/2015
- Genetics Home Reference (GHR) contains information on Nicolaides-Baraitser syndrome. This website is maintained by the National Library of Medicine.
- 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.