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Spondyloepimetaphyseal dysplasia, matrilin-3 type

Disease definition

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.

ORPHA:156728

Classification level: Disorder
  • Synonym(s):
    • SEMD, MATN3-related
    • SEMD, matrilin-3 type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q77.7
  • OMIM: 608728
  • UMLS: C1837481
  • MeSH: -
  • GARD: 10611
  • MedDRA: -
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