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.

References
  • http://ghr.nlm.nih.gov/condition/nicolaides-baraitser-syndrome
  • http://www.ncbi.nlm.nih.gov/books/NBK321516/
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Do different people with Nicolaides-Baraitser syndrome have different symptoms?

Any other diseases that look a lot like Nicolaides-Baraitser syndrome?

Do different people with Nicolaides-Baraitser syndrome have different symptoms?

Different people with Nicolaides-Baraitser syndrome are affected in different ways. People with Nicolaides-Baraitser syndrome (NCBRS) may not have every symptom associated with the condition. Almost all people with NCBRS will have intellectual disability and sparse hair. Small head size (microcephaly) and seizures are often seen in people with NCBRS, but there are some people with NCBRS who will not have these symptoms. About 2 out of every 3 individuals with NCBRS will have a small head size or seizures, or both. Language development can be different from one person to the next as well. About 1 out of 3 people with NCBRS will be unable to speak.

References
  • http://www.ncbi.nlm.nih.gov/books/NBK321516/
Any other diseases that look a lot like Nicolaides-Baraitser syndrome?

Nicolaides-Baraitser syndrome has similar symptoms to other genetic conditions including: Coffin-Siris syndrome, Williams syndrome, Cornelia de Lange syndrome, 2q37 microdeletion syndrome, Biotinidase deficiency. All of those conditions have some symptoms in common with Nicolaides-Baraitser syndrome, but are caused by different genetic mutations and can be distinguished from each other by a medical geneticist and genetic testing.

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

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