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Thoracomelic dysplasia

Disease definition

Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.

ORPHA:1803

Classification level: Disorder
  • Synonym(s):
    • Rivera-Perez-Salas syndrome
    • Thoracolimb dysplasia, Rivera type
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy
  • ICD-10: Q77.2
  • OMIM: 273740
  • UMLS: C1848863  C2931227
  • MeSH: -
  • GARD: 10612
  • MedDRA: -
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