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An extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.
Features include very common findings: Abnormality of the dentition, Microcephaly, Epicanthus, and Abnormality of the philtrum and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 2 | Intellectual disability, Global developmental delay |
Biomarker and diagnostic research for radioulnar synostosis-microcephaly-scoliosis syndrome has been reported in the published literature.
Phenotype severity distribution: 19 very common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for radioulnar synostosis-microcephaly-scoliosis syndrome.
50 publications have been identified in PubMed for radioulnar synostosis-microcephaly-scoliosis syndrome. Research spans Case Report / Case Series (36%), Clinical Trial Publication (26%), and Review / Meta-Analysis (14%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 18 | 36% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
2 |
Sideways curvature of the spine (scoliosis), Delayed skeletal maturation |
Arms and legs | 2 | Clinodactyly of the 5th finger, Finger syndactyly |
Head and neck | 1 | Microcephaly |
Growth and development | 1 | Short stature |
Skin | 1 | Abnormal dermatoglyphics |
Clinical study results |
13 |
26% |
Research summaries | 7 | 14% |
Laboratory research | 7 | 14% |
Testing and diagnosis research | 4 | 8% |
Disease patterns and progression | 1 | 2% |
Deng M (2026). [PMID: 41424369](https://pubmed.ncbi.nlm.nih.gov/41424369/). *Genetics in medicine : official journal of the American College of Medical Genetics*. [Basic Science / Preclinical]
Schecter DR (2026). [PMID: 41635268](https://pubmed.ncbi.nlm.nih.gov/41635268/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Kim JM (2026). [PMID: 42040242](https://pubmed.ncbi.nlm.nih.gov/42040242/). *Neurol Genet*. [Case Report / Case Series]
Liu WC (2026). [PMID: 41875223](https://pubmed.ncbi.nlm.nih.gov/41875223/). *J Bone Joint Surg Am*. [Diagnostic / Biomarker]
Tsujioka Y (2026). [PMID: 42094029](https://pubmed.ncbi.nlm.nih.gov/42094029/). *Mol Syndromol*. [Review / Meta-Analysis]
Alanazi AK (2026). [PMID: 41669050](https://pubmed.ncbi.nlm.nih.gov/41669050/). *Journal of orthopaedic case reports*. [Case Report / Case Series]
Mokhtari A (2026). [PMID: 40842263](https://pubmed.ncbi.nlm.nih.gov/40842263/). *Clinical genetics*. [Diagnostic / Biomarker]
Cha SM (2026). [PMID: 41687877](https://pubmed.ncbi.nlm.nih.gov/41687877/). *Hand surgery & rehabilitation*. [Clinical Trial Publication]
Dib A (2026). [PMID: 42128288](https://pubmed.ncbi.nlm.nih.gov/42128288/). *J Shoulder Elbow Surg*. [Clinical Trial Publication]
Lin IS (2026). [PMID: 41769593](https://pubmed.ncbi.nlm.nih.gov/41769593/). *Cureus*. [Case Report / Case Series]