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Radioulnar synostosis-microcephaly-scoliosis syndrome

Disease definition

Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.

ORPHA:3268

  • Synonym(s):
    • Giuffré-Tsukahara syndrome
    • Tsukahara syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: -
  • OMIM: 603438
  • UMLS: C1863881
  • MeSH: -
  • GARD: 394
  • MedDRA: -

Additional information

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