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Spondyloepiphyseal dysplasia, Maroteaux type

Synonym(s) Pseudo-Morquio syndrome type 2
Prevalence <1 / 1 000 000
Inheritance Not applicable
Age of onset Infancy
  • Q77.7
MeSH -
MedDRA -


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.

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Detailed information

Summary information
Clinical genetics review
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