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Start free with EleplanOculo-palato-cerebral syndrome
ORPHA:2714Malformation syndrome
Also called Oculo-palato-cerebral dwarfism
What it is
A rare orofacial clefting syndrome characterized by persistent hyperplastic primary vitreous, microphthalmia, microcephaly, small hands and feet, and mild-to-severe intellectual disability. Facial dysmorphic features include bulbous nose, full cheeks, and a cleft palate. Other symptoms may include cerebral atrophy, hearing loss and atopic dermatitis.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
19- Aplasia/Hypoplasia of the corpus callosum
- Aplasia/Hypoplasia of the nails
- Cataract
- Cleft palateDiagnostic criterion
- Frontal cortical atrophy
- Global developmental delay
- High, narrow palateDiagnostic criterion
- Intellectual disabilityDiagnostic criterion
- Intrauterine growth retardation
- Joint hypermobility
- Leukocoria
- Macrotia
- Microcephaly
- Remnants of the hyaloid vascular system
- Short foot
- Short statureDiagnostic criterion
- Small hand
- Spasticity
- Thickened helices
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.
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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