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Spondylometaphyseal dysplasia, Golden type

Disease definition

Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.


Classification level: Disorder
  • Synonym(s):
    • X-linked spondylometaphyseal dysplasia
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: No data available
  • ICD-10: Q77.8
  • ICD-11: LD24.4
  • OMIM: 313420
  • UMLS: C0796172
  • MeSH: -
  • GARD: 8343
  • MedDRA: -
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