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Tsukuhara syndrome

From Wikipedia, the free encyclopedia

Tsukuhara syndrome
Other namesRadioulnar synostosis-microcephaly-scoliosis syndrome
SpecialtyOrthopedic

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. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Radioulnar synostosis microcephaly scoliosis syndrome". www.orpha.net. Retrieved 2022-06-12.
  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. ^ "OMIM Entry - 603438 - RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS, AND MENTAL RETARDATION". omim.org. Retrieved 2022-06-12.


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This page was last edited on 12 July 2023, at 04:00
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