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Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).
Features include very common findings: Abnormal palate morphology, Macrocephaly, Dolichocephaly, and Narrow face and others; and common findings: Multicystic kidney dysplasia, Abnormality of the dentition, and Carious teeth.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 3 | Abnormal palate morphology, Macrocephaly, Narrow face |
Brain and nerves | 3 | Global developmental delay, Difficulty walking (gait disturbance), Abnormal speech pattern |
Muscles | 2 | Low muscle tone (hypotonia), Abnormality of the musculature |
Kidneys and urinary system | 1 | Multicystic kidney dysplasia |
Ears | 1 | Hearing abnormality |
Eyes | 1 | Strabismus |
Skin | 1 | Abnormal dermatoglyphics |
Biomarker and diagnostic research for radioulnar synostosis-developmental delay-hypotonia syndrome has been reported in the published literature.
Phenotype severity distribution: 17 very common features, 3 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for radioulnar synostosis-developmental delay-hypotonia syndrome.
155 publications have been identified in PubMed for radioulnar synostosis-developmental delay-hypotonia syndrome. Research spans Review / Meta-Analysis (54%), Basic Science / Preclinical (14%), and Case Report / Case Series (8%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 83 | 54% |
Laboratory research | 21 | 14% |
Patient case studies | 13 | 8% |
Clinical study results | 13 | 8% |
Testing and diagnosis research | 9 | 6% |
Disease patterns and progression | 9 | 6% |
New treatment approaches | 5 | 3% |
Other research | 2 | 1% |
Ritter P (2026). [PMID: 41979866](https://pubmed.ncbi.nlm.nih.gov/41979866/). *Med Klin Intensivmed Notfmed*. [Review / Meta-Analysis]
Zlatou V (2026). [PMID: 42056433](https://pubmed.ncbi.nlm.nih.gov/42056433/). *MMW Fortschr Med*. [Review / Meta-Analysis]
Leucht S (2026). [PMID: 40590923](https://pubmed.ncbi.nlm.nih.gov/40590923/). *Eur Arch Psychiatry Clin Neurosci*. [Review / Meta-Analysis]
Alesina PF (2026). [PMID: 41697281](https://pubmed.ncbi.nlm.nih.gov/41697281/). *Chirurgie (Heidelb)*. [Review / Meta-Analysis]
Schindele D (2026). [PMID: 41910601](https://pubmed.ncbi.nlm.nih.gov/41910601/). *Med Klin Intensivmed Notfmed*. [Review / Meta-Analysis]
Becker S (2026). [PMID: 41638229](https://pubmed.ncbi.nlm.nih.gov/41638229/). *Klin Padiatr*. [Review / Meta-Analysis]
Platzbecker AS (2026). [PMID: 41359791](https://pubmed.ncbi.nlm.nih.gov/41359791/). *Blood*. [Clinical Trial Publication]
Pradeau MA (2026). [PMID: 41115967](https://pubmed.ncbi.nlm.nih.gov/41115967/). *Dermatologie (Heidelberg, Germany)*. [Case Report / Case Series]
Weismann D (2026). [PMID: 41805972](https://pubmed.ncbi.nlm.nih.gov/41805972/). *Medizinische Klinik, Intensivmedizin und Notfallmedizin*. [Basic Science / Preclinical]
Wilken B (2026). [PMID: 41699225](https://pubmed.ncbi.nlm.nih.gov/41699225/). *MMW Fortschritte der Medizin*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center