Orphanet: Spondylocarpotarsal synostosis

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Spondylocarpotarsal synostosis

Disease definition

A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet.


Classification level: Disorder
  • Synonym(s):
    • Synspondylism
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: Q76.4
  • OMIM: 272460
  • UMLS: C1848934
  • MeSH: -
  • GARD: 4974
  • MedDRA: -

Detailed information


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