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]- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Radioulnar synostosis microcephaly scoliosis syndrome". www.orpha.net. Retrieved 2022-06-12.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "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.
- ^ "OMIM Entry - 603438 - RADIOULNAR SYNOSTOSIS WITH MICROCEPHALY, SHORT STATURE, SCOLIOSIS, AND MENTAL RETARDATION". omim.org. Retrieved 2022-06-12.