Orofaciodigital syndrome type 3 (OFD3) is a rare genetic disorder that affects the development of the face, mouth, and digits (fingers and toes). It is caused by a mutation in the OFD3 gene, which is responsible for the production of a protein called OFD3. Symptoms of OFD3 include facial abnormalities, such as a wide-set eyes, a small jaw, and a cleft lip and/or palate. Other features include malformed fingers and toes, hearing loss, and intellectual disability. Treatment for OFD3 is supportive and may include physical and occupational therapy, speech therapy, and hearing aids.

The symptoms of Orofaciodigital syndrome type 3 vary from person to person, but may include:

-Abnormal facial features, such as a small jaw, a flat midface, and a wide nasal bridge
-Low-set ears
-Cleft lip and/or palate
-Abnormalities of the hands and feet, such as extra fingers or toes, webbing between the fingers or toes, and/or fusion of the fingers or toes
-Intellectual disability
-Seizures
-Hearing loss
-Vision problems
-Feeding difficulties
-Growth delays
-Kidney abnormalities

Orofaciodigital syndrome type 3 is caused by a mutation in the gene called OFD3. This gene is responsible for the production of a protein called OFD3, which is involved in the development of the face, mouth, and digits. Mutations in this gene can lead to the development of Orofaciodigital syndrome type 3.

Treatment for Orofaciodigital syndrome type 3 is largely supportive and symptomatic. Treatment may include physical therapy, occupational therapy, speech therapy, and orthodontic treatment. Surgery may be necessary to correct any facial deformities or to improve breathing. Other treatments may include medications to control seizures, antibiotics to treat infections, and nutritional supplements to improve nutrition. Genetic counseling may also be recommended.

1. Genetic mutation in the OFD3 gene
2. Family history of Orofaciodigital syndrome type 3
3. Maternal exposure to certain medications or environmental toxins during pregnancy
4. Maternal diabetes or obesity during pregnancy
5. Maternal age over 35 years old

There is no known cure for Orofaciodigital syndrome type 3. However, there are medications that can help manage the symptoms. These include anticonvulsants, muscle relaxants, and medications to help with sleep and anxiety. Additionally, physical and occupational therapy can help improve motor skills and coordination.