Spondyloepimetaphyseal dysplasia, matrilin-3 type
Synonyms: SEMD, MATN3-related | SEMD, matrilin-3 type
A rare primary bone dysplasia due to matrilin-3 varaints and characterized 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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