Orofaciodigital syndrome type 11 (OFD11) 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 OFD1 gene, which is responsible for the development of certain structures in the body. Symptoms of OFD11 include facial abnormalities, cleft lip and/or palate, malformed ears, and missing or malformed digits. Other features may include intellectual disability, seizures, and kidney abnormalities. Treatment for OFD11 is supportive and may include physical and occupational therapy, speech therapy, and surgery to correct facial and/or digit abnormalities.

The symptoms of Orofaciodigital Syndrome type 11 (OFD11) vary from person to person, but may include:

- Abnormalities of the face, head, and neck, including a small jaw, low-set ears, and a wide, flat nose
- Abnormalities of the hands and feet, including webbing of the fingers and toes, extra digits, and/or missing digits
- Abnormalities of the eyes, including small eyes, droopy eyelids, and/or crossed eyes
- Abnormalities of the teeth, including missing teeth, extra teeth, and/or abnormally shaped teeth
- Abnormalities of the brain, including intellectual disability, seizures, and/or hydrocephalus
- Abnormalities of the kidneys, including cysts, malformations, and/or kidney failure

Orofaciodigital syndrome type 11 is caused by a mutation in the gene called GJA1, which is located on chromosome 6. This gene is responsible for the production of a protein called connexin 43, which is important for the development of the face, mouth, and digits. Mutations in this gene can lead to a variety of symptoms, including cleft lip and palate, malformed ears, and malformed digits.

Treatment for Orofaciodigital syndrome type 11 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 OFD11 gene
2. Family history of Orofaciodigital syndrome type 11
3. Maternal exposure to certain medications or toxins during pregnancy
4. Abnormalities in the development of the face, mouth, and/or digits
5. Abnormalities in the structure of the brain and/or central nervous system
6. Abnormalities in the structure of the eyes, ears, and/or nose

There is no known cure for Orofaciodigital syndrome type 11. 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.