Nicolaides-Baraitser syndrome is a rare genetic disorder characterized by intellectual disability, facial abnormalities, and skeletal malformations. It is caused by a mutation in the MED12 gene. Symptoms may include delayed development, seizures, and behavioral problems.

The symptoms of Nicolaides-Baraitser syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Behavioral problems
-Speech delays
-Low muscle tone
-Abnormal facial features
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Skeletal abnormalities
-Skin abnormalities

Nicolaides-Baraitser syndrome is a rare genetic disorder caused by mutations in the SETBP1 gene. The exact cause of the mutations is unknown, but they are believed to be inherited in an autosomal dominant pattern.

Currently, there is no known cure for Nicolaides-Baraitser syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and medications to help manage seizures, behavioral issues, and other symptoms. Surgery may be recommended to correct physical deformities or to help improve mobility. Additionally, genetic counseling may be recommended for families affected by the condition.

The primary risk factor for Nicolaides-Baraitser syndrome is having a parent who carries a mutation in the SETBP1 gene. This gene mutation is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one mutated copy of the gene from a parent to be affected by the disorder. Other risk factors include having a family history of the disorder, being of Ashkenazi Jewish descent, and being a male.

At this time, there is no cure for Nicolaides-Baraitser syndrome. However, there are medications that can help manage some of the symptoms associated with the condition. These include medications to help with seizures, muscle spasms, and behavioral issues. Additionally, physical and occupational therapy can help improve mobility and coordination.