Autosomal recessive faciodigitogenital syndrome (FDG) is a rare genetic disorder that affects the development of the face, digits, and genitals. It is caused by a mutation in the gene that codes for the enzyme dihydropyrimidine dehydrogenase (DPD). Symptoms of FDG include facial dysmorphism, syndactyly (webbed fingers and toes), and genital malformations. Other features may include intellectual disability, growth retardation, and hearing loss. Treatment is supportive and may include physical and occupational therapy, speech therapy, and genetic counseling.

The symptoms of Autosomal recessive faciodigitogenital syndrome (FDG) include:

-Facial features such as a broad forehead, wide-set eyes, a short nose, and a small chin
-Abnormalities of the hands and feet, including webbing of the fingers and toes, extra digits, and/or fused digits
-Genital abnormalities, including Undescended testes in males and/or labial fusion in females
-Developmental delays, including delays in speech and motor skills
-Intellectual disability
-Seizures
-Hearing loss
-Vision problems
-Heart defects
-Kidney abnormalities

Autosomal recessive faciodigitogenital syndrome is caused by mutations in the SRD5A3 gene. This gene is responsible for producing an enzyme that helps regulate the production of hormones in the body. Mutations in this gene can lead to a variety of symptoms, including facial abnormalities, skeletal abnormalities, and genital abnormalities.

Unfortunately, there is no known cure for Autosomal recessive faciodigitogenital syndrome. Treatment is focused 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, hormone replacement therapy, and nutritional support.

1. Having a family history of Autosomal recessive faciodigitogenital syndrome.
2. Being of a certain ethnic background, such as Middle Eastern or North African.
3. Having a parent who is a carrier of the gene mutation that causes Autosomal recessive faciodigitogenital syndrome.
4. Being born with a genetic mutation that causes Autosomal recessive faciodigitogenital syndrome.

Unfortunately, there is no cure for Autosomal recessive faciodigitogenital syndrome. However, there are medications that can help manage some of the symptoms associated with the condition. These medications may include anticonvulsants, muscle relaxants, and medications to help with sleep disturbances. Additionally, physical and occupational therapy can help improve motor skills and coordination.