Orphanet: Spondyloenchondrodysplasia

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Disease definition

Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.


Classification level: Disorder
  • Synonym(s):
    • SPENCD
    • Spondyloenchondromatosis
    • Spondylometaphyseal dysplasia with enchondromatous changes
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q77.7
  • OMIM: 271550
  • UMLS: C0432222
  • MeSH: C535782
  • GARD: 4978
  • MedDRA: -
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