Achondroplasia

Definition:

Achondroplasia is the most common skeletal dysplasia and the most frequent cause of short-limbed dwarfism. It is usually recognised at birth because of its distinctive clinical and radiographic features. Newborn infants with achondroplasia typically present with disproportionate shortening of the limbs, a long and narrow trunk, a large head with frontal bossing and midface retrusion. This disease is caused by mutations of the transmembrane receptor FGFR3, an important regulator of bone growth. It is inherited in an autosomal dominant manner, but in the majority of cases it results from de novo mutations. The most common complications of achondroplasia are medullary and radicular compressions due to spinal stenosis and deformities of the lower limbs. Most individuals with achondroplasia have normal intelligence.

References:

[1]. Akihiro Yamashita, et al. Statin treatment rescues FGFR3 skeletal dysplasia phenotypes. Nature. 2014 Sep 25;513(7519):507-11. [Content Brief]

[2]. Florence Lorget, et al. Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. Am J Hum Genet. 2012 Dec 7;91(6):1108-14. [Content Brief]

[3]. Melanie B Laederich, et al. FGFR3 targeting strategies for achondroplasia. Expert Rev Mol Med. 2012 Jan 19;14:e11. [Content Brief]

[4]. Pascal Richette, et al. Achondroplasia: from genotype to phenotype. Joint Bone Spine. 2008 Mar;75(2):125-30. [Content Brief]

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