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Features include common findings: Open mouth, High palate, Thin vermilion border, and Prominent occiput and others; and sometimes findings: Micropenis, Microcephaly, Excessive sweating (hyperhidrosis), and Seborrheic dermatitis and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 4 | Excessive sweating (hyperhidrosis), Seborrheic dermatitis, Thickened skin |
Biomarker and diagnostic research for monosomy 22 has been reported in the published literature.
Phenotype severity distribution: 21 common features.
No clinical trials have been registered for monosomy 22.
70 publications have been identified in PubMed for monosomy 22. Research spans Epidemiology / Natural History (31%), Basic Science / Preclinical (30%), and Review / Meta-Analysis (10%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 22 | 31% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 6:18 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Head and neck |
3 |
High palate, Flat face, Microcephaly |
Arms and legs | 2 | Clinodactyly of the 5th finger, Finger syndactyly |
Bones and joints | 2 | Joint swelling, Contractures of the large joints |
Brain and nerves | 1 | Intellectual disability |
Digestive system | 1 | Hepatosplenomegaly |
Blood and immune system | 1 | Hypochromic microcytic anemia |
Muscles | 1 | Contractures of the large joints |
21 |
30% |
Research summaries | 7 | 10% |
Patient case studies | 7 | 10% |
Clinical study results | 6 | 9% |
Testing and diagnosis research | 5 | 7% |
New treatment approaches | 2 | 3% |
Kioko M (2026). [PMID: 41678285](https://pubmed.ncbi.nlm.nih.gov/41678285/). *The Journal of clinical investigation*. [Epidemiology / Natural History]
Bradford LE (2026). [PMID: 41892690](https://pubmed.ncbi.nlm.nih.gov/41892690/). *J Pediatric Infect Dis Soc*. [Clinical Trial Publication]
Ayana GM (2026). [PMID: 42104399](https://pubmed.ncbi.nlm.nih.gov/42104399/). *Parasit Vectors*. [Review / Meta-Analysis]
Liu Y (2026). [PMID: 42244325](https://pubmed.ncbi.nlm.nih.gov/42244325/). *Zhong Nan Da Xue Xue Bao Yi Xue Ban*. [Diagnostic / Biomarker]
Stålhammar G (2026). [PMID: 40838555](https://pubmed.ncbi.nlm.nih.gov/40838555/). *Acta Ophthalmol*. [Basic Science / Preclinical]
Ng'ombe H (2026). [PMID: 41753707](https://pubmed.ncbi.nlm.nih.gov/41753707/). *Microorganisms*. [Clinical Trial Publication]
Tsope L (2026). [PMID: 40795965](https://pubmed.ncbi.nlm.nih.gov/40795965/). *International health*. [Case Report / Case Series]
Tolmacheva EN (2026). [PMID: 41379265](https://pubmed.ncbi.nlm.nih.gov/41379265/). *J Assist Reprod Genet*. [Basic Science / Preclinical]
Papageorgiou L (2026). [PMID: 41751632](https://pubmed.ncbi.nlm.nih.gov/41751632/). *Genes*. [Basic Science / Preclinical]
Getachew E (2026). [PMID: 41519765](https://pubmed.ncbi.nlm.nih.gov/41519765/). *Trials*. [Epidemiology / Natural History]