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Start free with EleplanOrofaciodigital syndrome type 4
ORPHA:2753Malformation syndrome
Also called Baraitser-Burn syndrome · Mohr-Majewski syndrome · OFD4 · Oral-facial-digital syndrome type 4
What it is
A rare developmental disorder of the ciliopathy group characterized by postaxial polydactyly, mesomelic shortening of the legs (tibial hypoplasia), nonspecific orofacial features, and variable involvement of viscera (kidneys, liver) and the central nervous system.
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
Very common80–99%
42- Abnormality of eye movement
- Abnormality of the gingiva
- Abnormality of the outer ear
- Abnormality of the tongue
- Abnormal joint morphology
- Abnormal oral frenulum morphology
- Abnormal oral mucosa morphology
- Absent testis
- Aplasia/Hypoplasia of the mandible
- Aplasia/Hypoplasia of the tibia
- Choanal atresia
- Conductive hearing impairment
- Decreased testicular size
- Depressed nasal ridge
- Finger syndactyly
- Genu varum
- Global developmental delay
- Hamartoma
- Hypertelorism
- Intellectual disability
- Intrauterine growth retardation
- Joint dislocation
- Laryngomalacia
- Low-set ears
- Median cleft lip
- Microcephaly
- Micrognathia
- Micromelia
- Microtia, third degree
- Monorchism
- Oligohydramnios
- Oral synechia
- Orofacial cleft
- Postaxial hand polydactyly
- Posteriorly rotated ears
- Preaxial hand polydactyly
- Recurrent respiratory infections
- Retrognathia
- Severe short stature
- Short nose
- Specific learning disability
- Wide nose
Common30–79%
13These 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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