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Spondyloepiphyseal dysplasia, Maroteaux type

Disease definition

Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.


  • Synonym(s):
    • Pseudo-Morquio syndrome type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.7
  • OMIM: 184095
  • UMLS: C3159322
  • MeSH: -
  • GARD: 994
  • MedDRA: -

Detailed information


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