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Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.
Features include very common findings: Abnormality of the urinary system, Blindness, Cryptophthalmos, and Finger syndactyly and others; and common findings: Anal atresia, Anal stenosis, Abnormal nasal morphology, and Depressed nasal bridge and others. 65 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 5 | Orofacial cleft, Cleft upper lip, High palate |
Biomarker and diagnostic research for Fraser syndrome has been reported in the published literature.
Phenotype severity distribution: 8 very common features, 24 common features.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for Fraser syndrome.
116 publications have been identified in PubMed for Fraser syndrome. Research spans Basic Science / Preclinical (23%), Epidemiology / Natural History (22%), and Review / Meta-Analysis (20%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 27 | 23% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 4:29 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Fraser syndrome
Arms and legs |
3 |
Finger syndactyly, Toe syndactyly, Limb undergrowth |
Brain and nerves | 2 | Depressed nasal bridge, Intellectual disability |
Kidneys and urinary system | 2 | Abnormality of the urinary system, Renal hypoplasia/aplasia |
Lungs and breathing | 2 | Pulmonary hypoplasia, Abnormal lung lobation |
Ears | 1 | Conductive hearing impairment |
Eyes | 1 | Blindness |
Bones and joints | 1 | Vertebral segmentation defect |
Age of onset: before birth.
26 |
22% |
Research summaries | 23 | 20% |
Patient case studies | 18 | 16% |
Clinical study results | 14 | 12% |
Testing and diagnosis research | 6 | 5% |
Other research | 1 | 1% |
New treatment approaches | 1 | 1% |
O'Connor M (2026). [PMID: 40208292](https://pubmed.ncbi.nlm.nih.gov/40208292/). *Pediatr Cardiol*. [Epidemiology / Natural History]
Torres-Pérez JV (2026). [PMID: 41043553](https://pubmed.ncbi.nlm.nih.gov/41043553/). *Behav Brain Res*. [Basic Science / Preclinical]
Butler CC (2026). [PMID: 42019019](https://pubmed.ncbi.nlm.nih.gov/42019019/). *N Engl J Med*. [Clinical Trial Publication]
Dowrick JM (2026). [PMID: 41431864](https://pubmed.ncbi.nlm.nih.gov/41431864/). *Gut Microbes*. [Basic Science / Preclinical]
Senjab A (2026). [PMID: 41917973](https://pubmed.ncbi.nlm.nih.gov/41917973/). *J Med Case Rep*. [Case Report / Case Series]
Malhotra D (2026). [PMID: 42144508](https://pubmed.ncbi.nlm.nih.gov/42144508/). *Infect Dis Ther*. [Review / Meta-Analysis]
Haapanen MJ (2026). [PMID: 41679317](https://pubmed.ncbi.nlm.nih.gov/41679317/). *Lancet Healthy Longev*. [Epidemiology / Natural History]
Sahu D (2026). [PMID: 41947042](https://pubmed.ncbi.nlm.nih.gov/41947042/). *Clin Proteomics*. [Review / Meta-Analysis]
Ekwunife O (2026). [PMID: 42084873](https://pubmed.ncbi.nlm.nih.gov/42084873/). *JAMA Netw Open*. [Epidemiology / Natural History]
Perros AJ (2026). [PMID: 42144144](https://pubmed.ncbi.nlm.nih.gov/42144144/). *Immunol Lett*. [Basic Science / Preclinical]