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Sclerosteosis

ORPHA3152
Synonym(s) Cortical hyperostosis-syndactyly syndrome
Prevalence -
Inheritance Autosomal recessive
Age of onset -
ICD-10
  • M85.2
OMIM
UMLS
  • C0265301
MeSH
  • C537525
MedDRA -

Summary

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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Detailed information

Clinical genetics review
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