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Start free with EleplanMultiple epiphyseal dysplasia, Lowry type
ORPHA:166016Disease
Also called Multiple epiphyseal dysplasia with Robin phenotype
What it is
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal
- Classified as
- Disease
Recorded for the broader condition
- Inheritance
- Autosomal dominant, Autosomal recessiveMultiple epiphyseal dysplasia
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
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%
18- Abnormal sternum morphology
- Brachydactyly
- Broad nasal tip
- Cleft hard palate
- Delayed epiphyseal ossification
- Dislocated radial head
- Epiphyseal dysplasia
- Fibular hypoplasia
- Flattened epiphysis
- Fragmented epiphyses
- Genu valgum
- Hypertelorism
- Micrognathia
- Rhizomelia
- Scoliosis
- Short stature
- Small epiphyses
- Upslanted palpebral fissure
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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