Nicolaides-baraitser syndrome

Symptoms

What are the main symptoms of 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).

Other signs and symptoms of Nicolaides-Baraitser syndrome may include a skin disorder called eczema and hernias. The most common hernias are a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen or testes (inguinal hernia). Some have dental problems, such as widely spaced teeth, delayed eruption of teeth, and absent teeth. Most males with this condition have undescended testes, and females may have underdeveloped breasts. Nearly half of individuals with Nicolaides-Baraitser syndrome have feeding problems.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/nicolaides-baraitser-syndrome/symptoms/3734 • 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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