Nicolaides-baraitser syndrome

So far, all cases of Nicolaides-Baraitser syndrome have come from gene changes (mutations) new to the people affected. Neither parent is likely to have the same mutation, but testing the parents is still recommended to confirm the mutation is new in the child. It is also possible that one parent has the mutation in only sperm or egg cells. If this were the case, the parents would have a higher chance to have a second child with Nicolaides-Baraitser syndrome. There is no way to test for this. Genetic counseling is recommended for parents of children affected by Nicolaides-Baraitser syndrome.

People with Nicolaides-Baraitser syndrome should have the following surveillance:
An annual appointment with a neurologist to manage seizure risk, annual appointments with a developmental pediatrician, and appointments with an ophthalmologist (eye doctor) and hearing specialist, depending on symptoms. In addition, evaluation and treatment by a physical therapist and a speech therapist may help children with Nicolaides-Baraitser syndrome reach their highest potential.

The usual abbreviation for Nicolaides-Baraitser syndrome is NCBRS.

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).

Nicolaides-Baraitser syndrome is caused by a genetic change (mutation) in a gene called SMARCA2. Genes act as the instructions for the body. We have two copies of each gene – one copy is inherited from each parent. A mutation can cause a gene to not work properly. Nicolaides-Baraitser syndrome happens when a person has a mutation in one copy of the SMARCA2 gene. All reported cases of Nicolaides-Baraitser syndrome have been caused by a new change (mutation) in the SMARCA2 gene that did not come from either parent.

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.

There is no cure for Nicolaides-Baraitser syndrome. Treatment focuses on managing individual symptoms. Depending on the symptoms present, treatment might include medication, occupational therapy, physical therapy, speech therapy, and hearing aids.

Nicolaides-Baraitser syndrome is a dominant condition. That means having a genetic change in just one copy of the gene causes the symptoms. All reported cases of Nicolaides-Baraitser syndrome have been caused by new genetic changes (mutations) in the SMARCA2 gene. It is possible for a genetic change to occur randomly when an egg or sperm is formed. If a random genetic change occurs in the SMARCA2 gene, this can cause Nicolaides-Baraitser syndrome. This is a "de novo" change, because it is not inherited from a parent with the condition. If a person with Nicolaides-Baraitser syndrome did have a child, there would be a 50% chance that their child would also be affected.

When a healthcare provider suspects that a person may have Nicolaides-Baraitser syndrome based on clinical symptoms and health issues, a diagnosis can be confirmed by ordering genetic testing on the SMARCA2 gene.

Nicolaides-Baraitser syndrome is rare in that fewer than 100 individuals have been reported in scientific literature.

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.

There is a website run by parents of children with Nicolaides-Baraitser syndrome. The site has information and connections to events and other people. http://www.ncbrs.com/
The organization also has a Facebook group that can be found at https://www.facebook.com/groups/112351342117049/

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.