Autosomal recessive frontotemporal pachygyria (ARFT) is a rare genetic disorder characterized by abnormal development of the brain's frontal and temporal lobes. It is caused by mutations in the ARFGEF2 gene, which is responsible for the production of a protein that helps regulate the development of the brain. Symptoms of ARFT can include intellectual disability, seizures, and motor and speech delays.

The symptoms of Autosomal recessive frontotemporal pachygyria vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Speech and language delays
-Movement disorders
-Behavioral problems
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Abnormal head shape
-Abnormal facial features
-Abnormal skull shape
-Abnormal brain structure

The exact cause of autosomal recessive frontotemporal pachygyria is unknown. However, it is believed to be caused by a genetic mutation in one or more of the genes responsible for the development of the brain. Mutations in the genes ARFGEF2, ARHGAP26, and ARHGAP11 have been linked to this condition.

Unfortunately, there is no known cure for Autosomal recessive frontotemporal pachygyria. 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 help improve the appearance of the head and face. In some cases, a feeding tube may be necessary to ensure adequate nutrition.

1. Genetic mutations in the ARFGEF2 gene
2. Consanguinity (marriage between close relatives)
3. Family history of the disorder
4. Environmental factors, such as exposure to certain toxins or infections during pregnancy
5. Maternal age over 35 years old

At this time, there is no known cure or medications for Autosomal recessive frontotemporal pachygyria. Treatment is focused on managing the symptoms of the condition, which may include physical therapy, occupational therapy, speech therapy, and medications to help with seizures or other neurological symptoms.