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Synonym(s) Cortical hyperostosis-syndactyly syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
  • M85.2
  • C0265301
  • C537525
MedDRA -


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

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Clinical genetics review
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