Achondroplasia

@article{Horton2007Achondroplasia,
  title={Achondroplasia},
  author={William A. Horton and Judith G Hall and Jacqueline T. Hecht},
  journal={The Lancet},
  year={2007},
  volume={370},
  pages={162-172}
}
Achondroplasia is the most common form of short limb dwarfism in human beings, affecting more than 250,000 individuals worldwide. More than 95% of patients have the same point mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) and more than 80% of these are new mutations. The mutation, which causes gain of FGFR3 function, affects many tissues, most strikingly the cartilaginous growth plate in the growing skeleton, leading to a variety of manifestations and complications. The… Expand
New developments in the management of achondroplasia
TLDR
Various substances in the drug development pipeline which target elements in molecular disease mechanism such as FGF (fibroblast growth factor) ligands, FGFR3, MAPK signalling as well as the C‑type natriuretic peptide receptor NPR‑B (natriuretischen Peptids Typ C). Expand
Neurological Manifestations of Achondroplasia
TLDR
The neurological complications seen in patients with achondroplasia are delineated to allow early and more effective intervention so as to ameliorate the nature and severity of the long-term effects of the neurological complications. Expand
Novel therapeutic approaches for the treatment of Achondroplasia.
TLDR
This review provides a brief overview of the preclinical mouse models of achondroplasia that have led to new, non-surgical therapeutic strategies being assessed and applied to children with achonderical dwarfism through pioneering clinical trials. Expand
Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia
TLDR
A mutation within the FGFR3 gene confirms the clinical diagnosis of ACH, and it seems to be causing the psychomotor delay in this patient. Expand
Achondroplasia: a comprehensive clinical review
  • R. Pauli
  • Medicine
  • Orphanet Journal of Rare Diseases
  • 2019
TLDR
This review provides 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. Expand
Obesity in achondroplasia patients: from evidence to medical monitoring
TLDR
It is confirmed that obesity is a major health problem in achondroplasia necessitating an early yet complex clinical management, and anticipatory care should be directed at identifying children who are at high risk to develop obesity and intervening to prevent the metabolic complications in adults. Expand
The first European consensus on principles of management for achondroplasia
TLDR
The EAF developed a consensus on guiding principles of management of achondroplasia to provide a basis for developing optimal care in Europe and provides all healthcare professionals, patient advocacy groups and policy makers involved in the management of an experienced multidisciplinary team with overarching considerations when developing health systems to support the management. Expand
Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history.
TLDR
A critical review and discussion of the natural history of achondroplasia based on current literature evidence and the perspectives of clinicians with extensive knowledge and practical experience in managing individuals with this diagnosis is provided. Expand
Evaluation of FGFR inhibitor ASP5878 as a drug candidate for achondroplasia
TLDR
A new FGFR inhibitor, ASP5878, which was originally developed as an anti-cancer drug, elongated the bone of achondroplasia model male mice at the dose of 300 μg/kg, which confers an AUC of 275 ng·h/ml in juvenile mice, and was less effective in bone elongation than a CNP analogue. Expand
Epidemiology of achondroplasia: A population‐based study in Europe
TLDR
The largest European population‐based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network confirmed the increased risk for older fathers of having infants with de novo achondroplasia. Expand
...
1
2
3
4
5
...

References

SHOWING 1-4 OF 4 REFERENCES
Recent milestones in achondroplasia research
  • W. Horton
  • Biology, Medicine
  • American journal of medical genetics. Part A
  • 2006
TLDR
Achondroplasia eluded attempts at linkage with the Human Genome Project generating markers that could be used for linkage analysis in the early 1990s, presumably because informative families were small in both number and size. Expand
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.
TLDR
Achondroplasia, the most common form of short-limbed dwarfism in humans, occurs between 1 in 15,000 and 40,000 live births and recent evidence suggests that the phenotypic differences may be due to specific alleles with varying degrees of ligand-independent activation, allowing the receptor to be constitutively active. Expand
Fibroblast Growth Factor Receptor 3 Mutations in Achondroplasia and Related Forms of Dwarfism
TLDR
The mainstay of this research has been the discovery of a novel type of “cell reprograming” called “sry-like high mobility group box transcription factor” which is able to “talk” to the FGF of fibroblast growth factor receptor. Expand
Health Supervision for Children With Achondroplasia
TLDR
Anticipatory care should be directed at identifying children who are at high risk and intervening to prevent serious sequelae and to help the pediatrician care for children with achondroplasia and their families. Expand