SynthesisAmerican journal of medical genetics. Part A2020
Birth prevalence of achondroplasia: A systematic literature review and meta-analysis.
Synthesis in American journal of medical genetics. Part A, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 5 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
66 citing papers in PubMed, 5 syntheses or guidelines pooled it, 148 citations in OpenAlex.
- Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age-Stratified Guidelines.Orthodontics & craniofacial research · 2026Pooled it
- UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process.Archives of disease in childhood · 2026Guideline
- Burden and Treatment of Achondroplasia: A Systematic Literature Review.Advances in therapy · 2023Pooled it
- Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies.Orphanet journal of rare diseases · 2022Pooled it
- Birth prevalence of achondroplasia: A systematic literature review and meta-analysis.American journal of medical genetics. Part A · 2020Pooled it
- Phase 1 safety, tolerability, pharmacokinetics and pharmacodynamics results of a long-acting C-type natriuretic peptide prodrug, TransCon CNP.British journal of clinical pharmacology · 2022Trial
- Well, How Did We Get Here? The Current State of Pediatric Endocrinology.Journal of pediatrics. Clinical practice · 2026Article
- Predicting Craniospinal Surgery in Pediatric Achondroplasia: Benchmarking Statistical Inference and Explainable AI Under Rare-Disease Constraints.Annals of biomedical engineering · 2026Article
- Dosing challenges for chemotherapy and immunotherapy in congenital achondroplasia: a case report and literature review.Cancer chemotherapy and pharmacology · 2026Review
- Achondroplasia management in the era of targeted therapies: a meta-analysis of C-type natriuretic peptide analogs.Journal of the Endocrine Society · 2026Review
- Limb lengthening in achondroplasia: a cost-effectiveness analysis using a Markov model.Orphanet journal of rare diseases · 2026Article
- Experiences and treatment perspectives of adolescents and young adults with achondroplasia and caregivers: a qualitative interview study.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- C-Type Natriuretic Peptide Derivatives: Orthopaedic Implications in Achondroplasia.Journal of the Pediatric Orthopaedic Society of North America · 2026Review
- Development of Muscle Function in Children with Achondroplasia Under Vosoritide Treatment: A Retrospective Single-Centre Observational Study.Journal of musculoskeletal & neuronal interactions · 2026Observational
- An overview of the International Consensus Statement on achondroplasia.Orphanet journal of rare diseases · 2026Review
- Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve).Hormone research in paediatrics · 2026Article
- Qualitative Research in Children and Parents of Children with Achondroplasia to Evaluate the Content Validity of Multiple Clinical Outcome Assessments.Advances in therapy · 2026Article
- Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program.Hormone research in paediatrics · 2026Article
- Consensus statement on the management of Achondroplasia in the Middle East.Frontiers in endocrinology · 2026Article
- Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis.Orphanet journal of rare diseases · 2025Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Achondroplasia is a genetic disorder that results in disproportionate short stature. The true prevalence of achondroplasia is unknown as estimates vary widely. This systematic literature review and meta-analysis was conducted to better estimate worldwide achondroplasia birth prevalence. PubMed, Embase, Scielo, and Google Scholar were searched, complemented by manual searching, for peer-reviewed articles published between 1950 and 2019. Eligible articles were identified by two independent researchers using predefined selection criteria. Birth prevalence estimates were extracted for analysis, and the quality of evidence was assessed. A meta-analysis using a quality effects approach based on the inverse variance fixed effect model was conducted. The search identified 955 unique articles, of which 52 were eligible and included. Based on the meta-analysis, the worldwide birth prevalence of achondroplasia was estimated to be 4.6 per 100,000. Substantial regional variation was observed with a considerably higher birth prevalence reported in North Africa and the Middle East compared to other regions, particularly Europe and the Americas. Higher birth prevalence was also reported in specialized care settings. Significant heterogeneity (Higgins I
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.