Mikati-Najjar-Sahli syndrome is a rare genetic disorder characterized by intellectual disability, seizures, and facial abnormalities. It is caused by a mutation in the GNAO1 gene. Symptoms may include delayed development, intellectual disability, seizures, hypotonia, facial dysmorphism, and hearing loss. Treatment is symptomatic and supportive.

The symptoms of Mikati-Najjar-Sahli syndrome include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth retardation
-Hearing loss
-Vision problems
-Cleft lip and/or palate
-Heart defects
-Abnormalities of the hands and feet
-Kidney abnormalities
-Gastrointestinal problems
-Skin abnormalities
-Skeletal abnormalities

Mikati-Najjar-Sahli syndrome is a rare genetic disorder caused by a mutation in the GNAO1 gene. This gene is responsible for producing a protein that helps regulate the activity of certain neurons in the brain. The exact cause of the mutation is unknown, but it is believed to be inherited in an autosomal recessive pattern.

Currently, there is no known cure for Mikati-Najjar-Sahli 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 control seizures. Surgery may be recommended to correct any structural abnormalities in the brain or other organs. In some cases, a feeding tube may be necessary to ensure adequate nutrition.

The primary risk factor for Mikati-Najjar-Sahli syndrome is having a parent who carries a mutation in the SLC12A6 gene. This gene mutation is inherited in an autosomal recessive pattern, meaning that both parents must carry the mutated gene for a child to be affected. Other risk factors include having a family history of the disorder, being of Middle Eastern descent, and being a male.

At this time, there is no known cure or specific medications for Mikati-Najjar-Sahli syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and medications to help control seizures.