Orphanet: Radioulnar synostosis microcephaly scoliosis syndrome
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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

Classification level: Disorder
  • Synonym(s):
    • Giuffré-Tsukahara syndrome
    • Tsukahara syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.5
  • OMIM: 603438
  • UMLS: C1863881
  • MeSH: -
  • GARD: 394
  • MedDRA: -

  A summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016)

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Further information on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.