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Start free with EleplanMetaphyseal chondrodysplasia, Schmid type
ORPHA:174Disease
Also called MDSC · SMCD
What it is
Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.
Key facts
- Age of onset
- Childhood, Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Signs and symptoms
Very common80–99%
8Common30–79%
16- Abnormalities of the metaphyses of the hand
- Anterior rib cupping
- Broad proximal phalanges of the hand
- Disproportionate short-limb short stature
- Distal femoral metaphyseal irregularity
- Femoral bowing
- Flared metaphysis
- Genu varum
- Hip dysplasia
- Metaphyseal cupping of metacarpals
- Metaphyseal cupping of proximal phalanges
- Osteosclerosis of ribs
- Proximal femoral metaphyseal irregularity
- Short long bone
- Short tubular bones of the hand
- Widened proximal tibial metaphyses
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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