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Features include very common findings: High forehead, Broad nasal tip, Ptosis, and Epicanthus inversus and others; and common findings: Macrocephaly, Wide anterior fontanel, Hypertelorism, and Posteriorly rotated ears and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Growth and development | 2 | Intrauterine growth retardation, Short stature |
Biomarker and diagnostic research for six2-related frontonasal dysplasia has been reported in the published literature.
Phenotype severity distribution: 8 very common features, 11 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for six2-related frontonasal dysplasia.
158 publications have been identified in PubMed for six2-related frontonasal dysplasia. Research spans Review / Meta-Analysis (41%), Basic Science / Preclinical (18%), and Epidemiology / Natural History (17%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 64 | 41% |
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Eyes |
1 |
Ptosis |
Brain and nerves | 1 | Depressed nasal bridge |
Head and neck | 1 | Macrocephaly |
Laboratory research
29 |
18% |
Disease patterns and progression | 27 | 17% |
Patient case studies | 12 | 8% |
Clinical study results | 12 | 8% |
Testing and diagnosis research | 8 | 5% |
Other research | 5 | 3% |
New treatment approaches | 1 | 1% |
Voženílek D (2026). [PMID: 41707453](https://pubmed.ncbi.nlm.nih.gov/41707453/). *Neuroimage Clin*. [Basic Science / Preclinical]
Westlin C (2026). [PMID: 41496388](https://pubmed.ncbi.nlm.nih.gov/41496388/). *Neuroimage Clin*. [Clinical Trial Publication]
Muhr P (2026). [PMID: 41719728](https://pubmed.ncbi.nlm.nih.gov/41719728/). *Soc Sci Med*. [Review / Meta-Analysis]
Ryan IA (2026). [PMID: 41002227](https://pubmed.ncbi.nlm.nih.gov/41002227/). *J Craniofac Surg*. [Basic Science / Preclinical]
Iyyanar PPR (2026). [PMID: 41670220](https://pubmed.ncbi.nlm.nih.gov/41670220/). *Dis Model Mech*. [Basic Science / Preclinical]
Kennedy-Barnes E (2026). [PMID: 42226608](https://pubmed.ncbi.nlm.nih.gov/42226608/). *BJPsych Open*. [Clinical Trial Publication]
Münzel T (2026). [PMID: 41586406](https://pubmed.ncbi.nlm.nih.gov/41586406/). *Glob Heart*. [Review / Meta-Analysis]
Callanan L (2026). [PMID: 41986531](https://pubmed.ncbi.nlm.nih.gov/41986531/). *J Neurol*. [Epidemiology / Natural History]
Nielsen G (2026). [PMID: 41709912](https://pubmed.ncbi.nlm.nih.gov/41709912/). *Brain Commun*. [Case Report / Case Series]
Tran AJ (2026). [PMID: 41657552](https://pubmed.ncbi.nlm.nih.gov/41657552/). *Front Physiol*. [Basic Science / Preclinical]