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Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Disease definition

Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

ORPHA:93346

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: Q77.7
  • OMIM: 184250
  • UMLS: C0700635
  • MeSH: -
  • GARD: 134
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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