Oculo facio cardio dental syndrome
Oculo-facio-cardio-dental syndrome (OFCD) is a rare genetic disorder that primarily affects the eyes, face, heart, and teeth. It is an X-linked dominant condition that occurs almost exclusively in females.
Symptoms[edit | edit source]
The symptoms of OFCD syndrome can vary greatly from person to person. However, the four main features of the syndrome are:
- Ocular dysplasia: This refers to abnormalities in the development of the eyes. In OFCD syndrome, this often manifests as microphthalmia (small eyes), cataracts, or glaucoma.
- Facial dysmorphism: This refers to unusual facial characteristics, such as a cleft palate or a broad nasal bridge.
- Cardiac defects: These can range from minor heart murmurs to serious congenital heart defects.
- Dental anomalies: These can include delayed eruption of permanent teeth, missing teeth, or unusually large canines.
Causes[edit | edit source]
OFCD syndrome is caused by mutations in the BCOR gene. This gene provides instructions for making a protein that helps regulate gene activity in the nucleus of cells. Mutations in the BCOR gene disrupt this regulation, leading to the abnormalities seen in OFCD syndrome.
Diagnosis[edit | edit source]
Diagnosis of OFCD syndrome is based on the presence of the characteristic symptoms. Genetic testing can confirm the diagnosis by identifying a mutation in the BCOR gene.
Treatment[edit | edit source]
There is currently no cure for OFCD syndrome. Treatment is symptomatic and supportive, and may include surgery to correct heart defects or dental anomalies, and vision aids for ocular dysplasia.
Prognosis[edit | edit source]
The prognosis for individuals with OFCD syndrome varies depending on the severity of the symptoms. With appropriate treatment and management, many individuals with OFCD syndrome can lead healthy, productive lives.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Oculo facio cardio dental syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
