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Start free with EleplanOrofaciodigital syndrome type 2
ORPHA:2751Malformation syndrome
Also called Oral-facial-digital syndrome type 2 · Mohr syndrome · OFD2
What it is
A rare developmental disorder in the ciliopathy group characterized by craniofacial, oral and digital features.
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%
18- Abnormal oral frenulum morphology
- Agenesis of central incisor
- Bifid tongue
- Broad first metatarsal
- Broad hallux
- Complete duplication of hallux phalanx
- Finger clinodactyly
- Finger syndactyly
- Hamartoma of tongue
- High palate
- Hypoplasia of teeth
- Median cleft lip
- Preaxial foot polydactyly
- Short stature
- Submucous cleft soft palate
- Tongue nodules
- Wide nasal bridge
- Y-shaped metacarpals
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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