Nicolaides-baraitser syndrome

Overview

What is Nicolaides-Baraitser syndrome?

Nicolaides-Baraitser syndrome (NCBRS) is a genetic condition that affects many body systems. The most common symptoms are sparse hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (brachydactyly), seizures, and mild to severe intellectual disability with poor language development. About a third of people with NCBRS never speak. The characteristic facial features of NCBRS include a triangular face, deep-set eyes, a thin nasal bridge, wide nostrils, a pointed nasal tip, and a thick lower lip. Many have early skin wrinkling due to a lack of a fat layer under their skin (no subcutaneous fat).

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/nicolaides-baraitser-syndrome/overview/3728 • DATE UPDATED: 2016-06-10

References

http://ghr.nlm.nih.gov/condition/nicolaides-baraitser-syndrome

http://www.ncbi.nlm.nih.gov/books/NBK321516/

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