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Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice, cup-shaped ears, and narrow palpebral fissures with epicanthal folds, and intellectual deficit.
Features include common findings: Epicanthus, Abnormal pinna morphology, Blepharophimosis, and Intellectual disability and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 1 | Intellectual disability |
Bones and joints |
Biomarker and diagnostic research for Pfeiffer-Palm-Teller syndrome has been reported in the published literature.
Phenotype severity distribution: 8 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Pfeiffer-Palm-Teller syndrome.
288 publications have been identified in PubMed for Pfeiffer-Palm-Teller syndrome. Kisho has analyzed 217 by research type. Research spans Review / Meta-Analysis (58%), Basic Science / Preclinical (13%), and Epidemiology / Natural History (12%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 125 | 58% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Pfeiffer-Palm-Teller syndrome
1
Joint stiffness |
Growth and development | 1 | Short stature |
Laboratory research |
28 |
13% |
Disease patterns and progression | 27 | 12% |
Patient case studies | 23 | 11% |
Testing and diagnosis research | 9 | 4% |
Clinical study results | 3 | 1% |
Other research | 1 | 0% |
New treatment approaches | 1 | 0% |
Cioni P (2026). [PMID: 41437650](https://pubmed.ncbi.nlm.nih.gov/41437650/). *Rheumatology (Oxford)*. [Epidemiology / Natural History]
Palaparthi S (2026). [PMID: 42091310](https://pubmed.ncbi.nlm.nih.gov/42091310/). *Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu*. [Review / Meta-Analysis]
Xiao F (2026). [PMID: 41531116](https://pubmed.ncbi.nlm.nih.gov/41531116/). *Epilepsia*. [Diagnostic / Biomarker]
Aguilar AA (2026). [PMID: 41758717](https://pubmed.ncbi.nlm.nih.gov/41758717/). *AACN Adv Crit Care*. [Review / Meta-Analysis]
Asghar E (2026). [PMID: 41401403](https://pubmed.ncbi.nlm.nih.gov/41401403/). *Ocul Immunol Inflamm*. [Review / Meta-Analysis]
Radio FC (2026). [PMID: 41904678](https://pubmed.ncbi.nlm.nih.gov/41904678/). *Genet Med*. [Basic Science / Preclinical]
Fujiwara K (2026). [PMID: 41418585](https://pubmed.ncbi.nlm.nih.gov/41418585/). *Auris Nasus Larynx*. [Case Report / Case Series]
Beuriat PA (2026). [PMID: 42115454](https://pubmed.ncbi.nlm.nih.gov/42115454/). *Adv Tech Stand Neurosurg*. [Review / Meta-Analysis]
Buckner J (2026). [PMID: 41250525](https://pubmed.ncbi.nlm.nih.gov/41250525/). *Subst Use Misuse*. [Epidemiology / Natural History]
Vialle R (2026). [PMID: 40976314](https://pubmed.ncbi.nlm.nih.gov/40976314/). *Orthop Traumatol Surg Res*. [Review / Meta-Analysis]