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Page 1
Achondroplasia: Development, pathogenesis, and therapy.
Ornitz DM, Legeai-Mallet L. Ornitz DM, et al. Dev Dyn. 2017 Apr;246(4):291-309. doi: 10.1002/dvdy.24479. Epub 2017 Mar 2. Dev Dyn. 2017. PMID: 27987249 Free PMC article. Review.
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental …
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in …
Growth reference charts for children with hypochondroplasia.
Cheung MS, Cole TJ, Arundel P, Bridges N, Burren CP, Cole T, Davies JH, Hagenäs L, Högler W, Hulse A, Mason A, McDonnell C, Merker A, Mohnike K, Sabir A, Skae M, Rothenbuhler A, Warner J, Irving M. Cheung MS, et al. Am J Med Genet A. 2024 Feb;194(2):243-252. doi: 10.1002/ajmg.a.63431. Epub 2023 Oct 9. Am J Med Genet A. 2024. PMID: 37814549
Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference charts for this population. ...Measurements for height (983), weight (896), and HC (389) were collected from 188 (79 female) children with a diagn …
Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference charts …
Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.
Sabir AH, Sheikh J, Singh A, Morley E, Cocca A, Cheung MS, Irving M. Sabir AH, et al. Am J Med Genet A. 2021 Jan;185(1):73-82. doi: 10.1002/ajmg.a.61912. Epub 2020 Oct 14. Am J Med Genet A. 2021. PMID: 33051983
Hypochondroplasia (HCH) is a rare autosomal dominant skeletal dysplasia condition caused by FGFR3 mutations leading to disproportionate short stature. ...This is likely due to greater HCH awareness, improved imaging, and easier molecular testing. Thus, one sh …
Hypochondroplasia (HCH) is a rare autosomal dominant skeletal dysplasia condition caused by FGFR3 mutations leading to disprop …
Infigratinib low dose therapy is an effective strategy to treat hypochondroplasia.
Demuynck B, Shah BP, Mayeux F, Vasseur L, Barbault F, Ding J, Paull M, Reddi T, Muslimova E, Legeai-Mallet L. Demuynck B, et al. J Bone Miner Res. 2025 Oct 28;40(11):1255-1264. doi: 10.1093/jbmr/zjaf088. J Bone Miner Res. 2025. PMID: 40581757 Free PMC article.
Currently, there are no precision therapeutic options approved for hypochondroplasia. Infigratinib is an orally bioavailable FGFR1-3 selective tyrosine kinase inhibitor in development for achondroplasia and hypochondroplasia. ...These data provide support for the de …
Currently, there are no precision therapeutic options approved for hypochondroplasia. Infigratinib is an orally bioavailable FGFR1-3 …
Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis.
Baujat G, Hamandjian MA, Jannot AS, Karam P, Cormier-Daire V. Baujat G, et al. Orphanet J Rare Dis. 2025 Nov 3;20(1):555. doi: 10.1186/s13023-025-04069-5. Orphanet J Rare Dis. 2025. PMID: 41184854 Free PMC article.
BACKGROUND: Achondroplasia (ACH) and hypochondroplasia (HCH) are among the most common forms of skeletal dysplasia, caused by gain-of-function variants in the FGFR3 gene, leading to disproportionate short stature. ...ACH is often identified prenatally, whereas HC …
BACKGROUND: Achondroplasia (ACH) and hypochondroplasia (HCH) are among the most common forms of skeletal dysplasia, caused by …
Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia.
Nakano Y, Kubota T, Ohata Y, Takeyari S, Kitaoka T, Miyoshi Y, Ozono K. Nakano Y, et al. Endocr J. 2023 Apr 28;70(4):435-443. doi: 10.1507/endocrj.EJ22-0477. Epub 2023 Feb 4. Endocr J. 2023. PMID: 36740254 Free article.
An association between obesity and cardiometabolic risk factors related to cardiovascular events remains unknown in patients with achondroplasia/hypochondroplasia. This cross-sectional study investigated anthropometric measurements, body compositions and cardiometabolic ri …
An association between obesity and cardiometabolic risk factors related to cardiovascular events remains unknown in patients with achondropl …
TYRA-300, an FGFR3-selective inhibitor, promotes bone growth in two FGFR3-driven models of chondrodysplasia.
Starrett JH, Lemoine C, Guillo M, Fayad C, Kaci N, Neal M, Pettitt EA, Pache M, Ye Q, Chouinard M, Allen EL, Baujat G, Hudkins RL, Bober MB, Harris T, Swanson RV, Legeai-Mallet L. Starrett JH, et al. JCI Insight. 2025 Apr 3;10(9):e189307. doi: 10.1172/jci.insight.189307. eCollection 2025 May 8. JCI Insight. 2025. PMID: 40178985 Free PMC article.
Achondroplasia (ACH) and hypochondroplasia (HCH), the two most common types of dwarfism, are each caused by FGFR3 gain-of-function mutations that result in increased FGFR3 signaling, which disrupts chondrogenesis and osteogenesis, resulting in disproportionately sho …
Achondroplasia (ACH) and hypochondroplasia (HCH), the two most common types of dwarfism, are each caused by FGFR3 gain-of-func …
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival.
González-Del Angel A, Rius R, Alcántara-Ortigoza MA, Spector E, Del Castillo V, Mata-García LE. González-Del Angel A, et al. Am J Med Genet A. 2018 May;176(5):1225-1231. doi: 10.1002/ajmg.a.38660. Am J Med Genet A. 2018. PMID: 29681095 Review.
Achondroplasia-hypochondroplasia (ACH-HCH) complex is caused by the presence of two different pathogenic variants in each allele of FGFR3 gene. ...This case is particularly relevant to our understanding of ACH-HCH complex and for the genetic counseling of cou …
Achondroplasia-hypochondroplasia (ACH-HCH) complex is caused by the presence of two different pathogenic variants in each alle …
Low bone mineral density in achondroplasia and hypochondroplasia.
Matsushita M, Kitoh H, Mishima K, Kadono I, Sugiura H, Hasegawa S, Nishida Y, Ishiguro N. Matsushita M, et al. Pediatr Int. 2016 Aug;58(8):705-8. doi: 10.1111/ped.12890. Epub 2016 Apr 5. Pediatr Int. 2016. PMID: 26716907
BACKGROUND: Achondroplasia (ACH) and hypochondroplasia (HCH) are the most common form of short-limb skeletal dysplasias caused by activated fibroblast growth factor receptor 3 (FGFR3) signaling. ...There was no significant difference in BMD and Z-score between ACH a …
BACKGROUND: Achondroplasia (ACH) and hypochondroplasia (HCH) are the most common form of short-limb skeletal dysplasias caused …
Temporal lobe malformations, focal epilepsy, and FGFR3 mutations: a non-causal association?
Bernardo P, Budetta M, Aliberti F, Carpentieri ML, De Brasi D, Sorrentino L, Russo C, D'amico A, Cinalli G, Santoro C, Coppola A. Bernardo P, et al. Neurol Sci. 2021 May;42(5):2063-2067. doi: 10.1007/s10072-020-04923-3. Epub 2021 Jan 3. Neurol Sci. 2021. PMID: 33389251
Temporal lobe abnormalities and focal epilepsy have been documented in FGFR3-related clinical condition, including hypochondroplasia and Muenke syndrome. FGFR3 is expressed in the brain during development and could play a role in nervous system development and hippocampal …
Temporal lobe abnormalities and focal epilepsy have been documented in FGFR3-related clinical condition, including hypochondroplasia …
50 results