Living with Oculofaciocardiodental syndrome
A genetic condition affecting the eyes, face, heart, and teeth, including small eyes, cataracts, and very large tooth roots.
Understanding Oculofaciocardiodental syndrome
Many people are born with small eyes, and cataracts and a high risk of glaucoma can lead to vision loss. Faces are often long and narrow, and cleft palate can occur. Heart defects, such as a hole between heart chambers, are common. Teeth with very large roots are typical. Hearing loss and intellectual disability can occur. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small eyeballs (microphthalmia)
- Cataracts
- Cleft palate
- Heart wall differences (septal defects)
- Teeth that come in late, are missing, or are misaligned
- Toe differences such as hammertoe
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and gum, teeth and mouth specialists.
- 3Consider genetic testing
Changes in BCOR are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the BCOR gene cause this condition. It is inherited in an X-linked way.
Also known as: bcor-related lenz microphthalmia syndrome; cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; mcops2; microphthalmia syndromic 2; microphthalmia, cataract, radiculomegaly and septal heart defect; microphthalmia, syndromic 2
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Oculofaciocardiodental syndrome.
Explore research for Oculofaciocardiodental syndrome
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