Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (653 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Achondroplasias; Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans; SADDAN; SADDANs; SADDAN Dysplasia; Dysplasia, SADDAN; Dysplasias, SADDAN; SADDAN Dysplasias.
Where it fits in the MeSH classification
- Broader topics
- Dwarfism; Osteochondrodysplasias
- Narrower topics
- Thanatophoric Dysplasia
- See also
- Receptor, Fibroblast Growth Factor, Type 3
Related concepts
- Genu Varum
Research landscape
PubMed indexes 2,723 records tagged with the MeSH heading “Achondroplasia” (counts retrieved 2026-10-29). 431 of them (15.8%) were published from 2020 onward, and the busiest period so far is through 1999 with 1,383 records.
Reviews account for 298 records (10.9%) and meta-analyses for 8. Randomized controlled trials number 14 (0.5%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 1,383 |
| 2000-2009 | 443 |
| 2010-2019 | 466 |
| 2020 onward | 431 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 298 | 10.9% |
| Meta-analyses | 8 | 0.3% |
| Randomized controlled trials | 14 | 0.5% |
Method: PubMed query "Achondroplasia"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
Achondroplasia: a comprehensive clinical review [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism).
- Closing excerpt
- This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (120 words)
Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in which these are best diagnosed and addressed, and whether preventive strategies can ameliorate the problems that can compromise the health and well being of affected individuals. This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 30606190 · DOI · PMC6318916
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness.
- Closing excerpt
- Furthermore, this study provides the first indication of the relative contribution of each gene and confirms that they account for the majority of PSACH and MED.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (195 words)
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness. PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric matrix protein (COMP); however, AD-MED is genetically heterogenous and can also result from mutations in matrilin-3 (MATN3) and type IX collagen (COL9A1, COL9A2, and COL9A3). In contrast, autosomal recessive MED (rMED) appears to result exclusively from mutations in sulphate transporter solute carrier family 26 (SLC26A2). The diagnosis of PSACH and MED can be difficult for the nonexpert due to various complications and similarities with other related diseases and often mutation analysis is requested to either confirm or exclude the diagnosis. Since 2003, the European Skeletal Dysplasia Network (ESDN) has used an on-line review system to efficiently diagnose cases referred to the network prior to mutation analysis. In this study, we present the molecular findings in 130 patients referred to ESDN, which includes the identification of novel and recurrent mutations in over 100 patients. Furthermore, this study provides the first indication of the relative contribution of each gene and confirms that they account for the majority of PSACH and MED.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 21922596 · DOI · PMC3272220
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study [3]
Abstract reading summary — source excerpts
- Opening excerpt
- PurposeAchondroplasia is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene that lead to impaired endochondral ossification.
- Closing excerpt
- ConclusionVosoritide treatment has safe and persistent growth-promoting effects in children with achondroplasia treated daily for two years.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (187 words)
PurposeAchondroplasia is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene that lead to impaired endochondral ossification. Vosoritide, an analog of C-type natriuretic peptide, stimulates endochondral bone growth and is in development for the treatment of achondroplasia. This phase 3 extension study was conducted to document the efficacy and safety of continuous, daily vosoritide treatment in children with achondroplasia, and the two-year results are reported.MethodsAfter completing at least six months of a baseline observational growth study, and 52 weeks in a double-blind, placebo-controlled study, participants were eligible to continue treatment in an open-label extension study, where all participants received vosoritide at a dose of 15.0 μg/kg/day.ResultsIn children randomized to vosoritide, annualized growth velocity increased from 4.26 cm/year at baseline to 5.39 cm/year at 52 weeks and 5.52 cm/year at week 104. In children who crossed over from placebo to vosoritide in the extension study, annualized growth velocity increased from 3.81 cm/year at week 52 to 5.43 cm/year at week 104. No new adverse effects of vosoritide were detected.ConclusionVosoritide treatment has safe and persistent growth-promoting effects in children with achondroplasia treated daily for two years.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 34341520 · DOI · PMC8327889
Excess FGFR3 signaling in achondroplasia disrupts turnover of resting zone chondrocytes via CREB signaling [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Achondroplasia, associated with gain-of-function mutations in FGFR3, causes growth plate cartilage dysfunction, resulting in short-limb dwarfism.
- Closing excerpt
- These findings demonstrate that excess FGFR3 signaling disrupts resting zone chondrocyte properties and suggest potential therapeutic targets for achondroplasia.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (151 words)
Achondroplasia, associated with gain-of-function mutations in FGFR3, causes growth plate cartilage dysfunction, resulting in short-limb dwarfism. However, its precise molecular and cellular mechanisms remain unclear. To address this, we aimed to generate knock-in mice (Fgfr3Ach) harboring the achondroplasia mutation (p.Gly380Arg). In addition to previously reported abnormalities, we observe an expansion of the resting zone. EdU labeling and lineage tracing analyses indicate that disruption of turnover and impairment of stem cell-like behavior of resting zone chondrocytes results in accumulation of cells in the resting zone. Single-cell RNA-seq and immunohistochemical analysis identify a cell cluster that corresponds to the expanded resting zone. Pathway analysis and functional experiments reveal that CREB disrupts stem cell-like properties in resting zone chondrocytes and contributes to dwarfism. Administration of CREB inhibitor 666-15 restores growth plate pathology and bone length. These findings demonstrate that excess FGFR3 signaling disrupts resting zone chondrocyte properties and suggest potential therapeutic targets for achondroplasia.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41748604 · DOI · PMC12946275
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Achondroplasia [5]
- Research article The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans [6]
- Research article Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations [7]
- Research article Cartilage oligomeric matrix protein: COMPopathies and beyond [8]
- Research article Achondroplasia: Development, pathogenesis, and therapy [9]
- Research article Medical complications of achondroplasia: a multicentre patient review [10]
References
- Pauli RM. Achondroplasia: a comprehensive clinical review. . 2019. PMID 30606190 · DOI · PMC6318916
- Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, et al.. Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. . 2012. PMID 21922596 · DOI · PMC3272220
- Savarirayan R, Tofts L, Irving M, Wilcox WR, Bacino CA, Hoover-Fong J, et al.. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. . 2021. PMID 34341520 · DOI · PMC8327889
- Horike N, Oura S, Koyamatsu S, Tanaka N, Iimori Y, Fujita K, et al.. Excess FGFR3 signaling in achondroplasia disrupts turnover of resting zone chondrocytes via CREB signaling. . 2026. PMID 41748604 · DOI · PMC12946275
- Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007. PMID 17630040 · DOI
- Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev. 2000. PMID 10696568 · DOI
- Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat. 2002. PMID 11968079 · DOI
- Posey KL, Coustry F, Hecht JT. Cartilage oligomeric matrix protein: COMPopathies and beyond. Matrix Biol. 2018. PMID 29530484 · DOI · PMC6129439
- Ornitz DM, Legeai-Mallet L. Achondroplasia: Development, pathogenesis, and therapy. Dev Dyn. 2017. PMID 27987249 · DOI · PMC5354942
- Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI. Medical complications of achondroplasia: a multicentre patient review. J Med Genet. 1998. PMID 9733026 · DOI · PMC1051420
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.