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Start free with EleplanOculofaciocardiodental syndrome
ORPHA:2712Malformation syndrome
Also called Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome · OFCD syndrome
What it is
Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- X-linked dominant
- Classified as
- Malformation syndrome
Signs and symptoms
Very common80–99%
7Common30–79%
15Sometimes5–29%
21- Clinodactyly of the 5th finger
- Cubitus valgus
- Ectopia lentis
- Feeding difficulties in infancy
- Genu valgum
- Glaucoma
- Global developmental delay
- Hearing impairment
and 13 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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