Tsukuhara syndrome

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Tsukuhara syndrome
Other namesRadioulnar synostosis-microcephaly-scoliosis syndrome
Specialty Orthopedic

Tsukuhara syndrome, also known as radioulnar synostosis-microcephaly-scoliosis syndrome is an infrequently occurring genetic skeletal dysplasia which is characterized by a combination of radioulnar synostosis, microcephaly, scoliosis, short height, and intellectual disabilities. [1] [2] [3] Only 13 cases worldwide have been described in medical literature. [4]

References

  1. ↑ "Radioulnar synostosis microcephaly scoliosis syndrome". Orphanet. Retrieved 2025-05-29.
  2. ↑ "Radioulnar synostosis-microcephaly-scoliosis syndrome (Concept Id: C1863881) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-06-12.
  3. ↑ "Radioulnar synostosis-microcephaly-scoliosis syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-12.
  4. ↑ Kniffin, Cassandra L. (2011-01-11). "Tsukuhara Syndrome". OMIM. Retrieved 2025-05-29.


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