Gabriele-de Vries syndrome is a rare genetic disorder characterized by intellectual disability, delayed development, and distinctive facial features. It is caused by a mutation in the GDE gene, which is responsible for the production of an enzyme called glycerophosphodiesterase. People with this disorder typically have a round face, wide-set eyes, a small nose, and a wide mouth. They may also have seizures, hearing loss, and vision problems.

The symptoms of Gabriele-de Vries syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities
-Abnormalities of the hands and feet
-Cleft lip and/or palate
-Abnormalities of the head and face
-Abnormalities of the spine
-Abnormalities of the genitalia
-Abnormalities of the urinary tract
-Abnormalities of the gastrointestinal tract

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

There is no known cure for Gabriele-de Vries syndrome. Treatment focuses on managing the symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and other therapies to help with motor skills, communication, and socialization. Medications may also be prescribed to help with seizures, anxiety, and other symptoms.

The primary risk factor for Gabriele-de Vries syndrome is having a parent with a mutation in the GABRD gene. Other risk factors include having a family history of the disorder, being of Dutch descent, and being female.

Unfortunately, there is no cure for Gabriele-de Vries syndrome. However, there are medications that can help manage the symptoms of the condition. These medications include anticonvulsants, muscle relaxants, and medications to help with sleep. Additionally, physical and occupational therapy can help improve mobility and coordination.