Johnson Neuroectodermal Syndrome (JNS) is a rare genetic disorder characterized by a combination of physical and neurological abnormalities. It is caused by a mutation in the gene encoding the protein filamin A (FLNA). Symptoms of JNS include intellectual disability, seizures, facial dysmorphism, skeletal abnormalities, and cardiac defects.

The symptoms of Johnson neuroectodermal syndrome vary from person to person, but may include:

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

Johnson neuroectodermal syndrome is caused by a mutation in the EBF3 gene. This gene is responsible for producing a protein that helps regulate the development of certain cells in the body. The mutation in the gene can lead to the development of various physical and neurological abnormalities.

The treatments for Johnson neuroectodermal syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and complications associated with the syndrome. This may include physical therapy, occupational therapy, speech therapy, and medications to help manage seizures, pain, and other symptoms. Surgery may be necessary to correct physical deformities or to treat complications such as hydrocephalus. In some cases, genetic counseling may be recommended.

1. Maternal consanguinity (related parents)
2. Advanced maternal age
3. Maternal diabetes
4. Maternal obesity
5. Maternal smoking
6. Maternal alcohol consumption
7. Maternal exposure to certain medications or environmental toxins
8. Family history of Johnson neuroectodermal syndrome

There is no cure for Johnson neuroectodermal syndrome, but medications can be used to manage symptoms. These medications may include anticonvulsants to control seizures, muscle relaxants to reduce muscle spasms, and medications to reduce inflammation. Physical and occupational therapy can also help to improve mobility and function.