Spondyloepimetaphyseal dysplasia, matrilin-3 type (Q88336): Difference between revisions
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Revision as of 14:32, 15 August 2026
Spondyloepimetaphyseal dysplasia (SEMD), matrilin-3 type is a form of SEMD characterised by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1983063881 |
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| English | Spondyloepimetaphyseal dysplasia, matrilin-3 type |
Spondyloepimetaphyseal dysplasia (SEMD), matrilin-3 type is a form of SEMD characterised by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands. |
