Ollier disease

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Ollier disease

ORPHA:296Disease

Also called Enchondromatosis Spranger type I · Multiple Enchondromatosis type I · Multiple Enchondromatosis, Ollier type

What it is

A rare primary bone dysplasia characterized by multiple enchondromas (benign cartilage-forming tumors). The lesions are generally unilateral or asymmetrically distributed. The most common affected site is the appendicular skeleton.

Key facts

Prevalence
1-9 / 100 000 (Europe)
Age of onset
Adolescent, Adult, Childhood
Inheritance
Not applicable
Classified as
Disease

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

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.

Genes

IDH1Disease-causing somatic mutation(s)
IDH2Disease-causing somatic mutation(s)
PTH1RDisease-causing germline mutation(s) (loss of function)

ICD-10 codes

Q78.4ICD-10 names this disease exactly — shared with 8 other rare diseases

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

GARD 7251MEDDRA 10014642MESH D004687MONDO 0008145OMIM 166000UMLS C0014084

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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