Medicine:Tsukuhara syndrome

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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" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3268. 
  2. ↑ "Radioulnar synostosis-microcephaly-scoliosis syndrome (Concept Id: C1863881) - MedGen - NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/400399. 
  3. ↑ "Radioulnar synostosis-microcephaly-scoliosis syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/394/radioulnar-synostosis-microcephaly-scoliosis-syndrome. 
  4. ↑ "OMIM Entry - 603438 - RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS, AND MENTAL RETARDATION" (in en-us). https://omim.org/entry/603438. 
Classification
External resources




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