Familial osteochondritis dissecans

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Familial osteochondritis dissecans

ORPHA:251262Disease

Also called Osteochondritis dissecans and short stature

What it is

Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

Key facts

Age of onset
Childhood
Inheritance
Autosomal dominant
Classified as
Disease

Gene

ACANDisease-causing germline mutation(s)

ICD-10 codes

M93.2filed under a broader ICD-10 category — shared with 1 other rare disease

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 4133MESH C580095MONDO 0100462UMLS C3665488

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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