Frank-Ter Haar syndrome is a rare genetic disorder characterized by a combination of physical and developmental abnormalities. It is caused by a mutation in the gene encoding the protein filamin A. Symptoms of the disorder include intellectual disability, seizures, facial dysmorphism, skeletal abnormalities, and cardiac defects.

The symptoms of Frank-Ter Haar syndrome include:

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

Frank-Ter Haar syndrome is a rare genetic disorder caused by a mutation in the PEX1 gene. This gene is responsible for the production of a protein called peroxisome biogenesis factor 1 (PEX1). This protein is essential for the formation and functioning of peroxisomes, which are small organelles found in cells that are involved in many important metabolic processes. Mutations in the PEX1 gene can lead to a deficiency of this protein, resulting in the development of Frank-Ter Haar syndrome.

Currently, there is no known cure for Frank-Ter Haar syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and orthopedic surgery. Other treatments may include medications to help manage seizures, pain, and other symptoms. Additionally, genetic counseling may be recommended for families affected by the condition.

The exact cause of Frank-Ter Haar syndrome is unknown, but it is believed to be caused by a genetic mutation. Risk factors for the condition include having a family history of the disorder, being of Dutch descent, and being a male.

Unfortunately, there is no cure or specific medications for Frank-Ter Haar 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 manage seizures, pain, and other symptoms.