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Mesomelic dysplasia, Savarirayan type

Disease definition

Mesomelic dysplasia, Savarirayan type is characterised by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.

ORPHA:85170

  • Synonym(s):
    • Mesomelic dysplasia with absent fibulas and triangular tibias
    • Triangular tibia-fibular aplasia syndrome
  • Prevalence: Unknown
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.8
  • OMIM: 605274
  • UMLS: C1854470
  • MeSH: -
  • GARD: 10584
  • MedDRA: -

Additional information

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