Tsukuhara syndrome explained

Tsukuhara syndrome
Synonyms:Radioulnar synostosis-microcephaly-scoliosis syndrome
Field: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]

Notes and References

  1. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Radioulnar synostosis microcephaly scoliosis syndrome . 2022-06-12 . www.orpha.net . en.
  2. Web site: Radioulnar synostosis-microcephaly-scoliosis syndrome (Concept Id: C1863881) - MedGen - NCBI . 2022-06-12 . www.ncbi.nlm.nih.gov . en.
  3. Web site: Radioulnar synostosis-microcephaly-scoliosis syndrome - About the Disease - Genetic and Rare Diseases Information Center . 2022-06-12 . rarediseases.info.nih.gov . en.
  4. Web site: OMIM Entry - 603438 - RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS, AND MENTAL RETARDATION . 2022-06-12 . omim.org . en-us.

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