Oculofaciocardiodental syndrome

X-linked dominant (affected mother)

Oculofaciocardiodental syndrome (OFCD syndrome) is a rare genetic disorder that primarily affects the eyes, face, heart, and teeth. It is inherited in an X-linked dominant manner and is caused by mutations in the BCOR gene.

Signs and Symptoms

Individuals with OFCD syndrome typically present with a range of symptoms that can vary in severity. Common features include:

• Microphthalmia (abnormally small eyes)
• Cataracts (clouding of the lens of the eye)
• Glaucoma (increased pressure in the eye)
• Facial dysmorphism (distinctive facial features)
• Congenital heart defects such as ventricular septal defect and atrial septal defect
• Dental anomalies including radiculomegaly (abnormally large tooth roots), delayed tooth eruption, and missing teeth

Genetics

OFCD syndrome is caused by mutations in the BCOR gene, which is located on the X chromosome. The BCOR gene provides instructions for making a protein that is involved in the regulation of gene expression. Mutations in this gene disrupt normal development, leading to the various features of the syndrome.

Diagnosis

Diagnosis of OFCD syndrome is based on clinical evaluation, identification of characteristic physical findings, and genetic testing to detect mutations in the BCOR gene. Prenatal diagnosis may be possible if the mutation in the family is known.

Treatment

There is no cure for OFCD syndrome, and treatment is symptomatic and supportive. Management may involve a team of specialists, including ophthalmologists, cardiologists, dentists, and genetic counselors. Regular monitoring and early intervention can help manage the symptoms and improve the quality of life for affected individuals.

Epidemiology

OFCD syndrome is extremely rare, with only a few dozen cases reported in the medical literature. It primarily affects females, as males with the condition are often more severely affected and may not survive to birth.

See Also

• Microphthalmia
• Cataracts
• Glaucoma
• Congenital heart defect
• Radiculomegaly
• BCOR

External Links

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