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