Melhem-Fahl syndrome is a rare genetic disorder characterized by intellectual disability, seizures, and facial abnormalities. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of the disorder can include developmental delays, intellectual disability, seizures, facial abnormalities, and skeletal abnormalities.

The symptoms of Melhem-Fahl syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Movement disorders
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Abnormalities of the hands and feet
-Skin abnormalities
-Gastrointestinal problems
-Endocrine abnormalities

Melhem-Fahl syndrome is a rare genetic disorder caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). This enzyme is responsible for breaking down certain molecules in the body, and when it is not functioning properly, it can lead to a buildup of these molecules in the body, resulting in the symptoms of Melhem-Fahl syndrome.

The treatment for Melhem-Fahl syndrome is focused on managing the symptoms. This may include physical therapy, occupational therapy, speech therapy, and medications to help with muscle spasms, seizures, and other symptoms. Surgery may be recommended to correct any structural abnormalities. In some cases, a feeding tube may be necessary to ensure adequate nutrition.

The primary risk factor for Melhem-Fahl syndrome is having a family history of the disorder. Other risk factors include being of Ashkenazi Jewish descent, being of Middle Eastern descent, and having a mutation in the GJB2 gene.

At this time, there is no cure for Melhem-Fahl syndrome. Treatment focuses on managing the symptoms and complications of the condition. Medications may be used to help control seizures, muscle spasms, and other symptoms. Physical and occupational therapy may also be recommended to help improve mobility and function.