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Start free with EleplanOrofaciodigital syndrome type 1
ORPHA:2750Malformation syndrome
Also called OFD1 · OFDI · OFDSI · Oral-facial-digital syndrome type 1 · Papillon-Léage-Psaume syndrome
What it is
A rare neurodevelopmental disorder in the ciliopathy group characterized by variable anomalies in affected females including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and viscera (kidneys, pancreas and ovaries). In males, it is mostly lethal, typically during the first or second trimester of pregnancy.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth, Europe)
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- X-linked dominant
- 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
Very common80–99%
9Common30–79%
20- Abnormality of the dentition
- Abnormal skull morphology
- Ataxia
- Cleft palate
- Clinodactyly of the 5th finger
- Cone-shaped epiphysis
- Deviation of finger
- Downslanted palpebral fissures
- Facial asymmetry
- Finger syndactyly
- Foot polydactyly
- Hamartoma of tongue
- Hand polydactyly
- Hypodontia
- Intellectual disability
- Reduced bone mineral density
- Seizure
- Short toe
- Tongue nodules
- Underdeveloped nasal alae
Sometimes5–29%
36- Abnormality of dental enamel
- Abnormality of the pancreas
- Abnormality of the skeletal system
- Agenesis of corpus callosum
- Alopecia
- Brachydactyly
- Brittle hair
- Choanal atresia
and 28 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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