Achondroplasia: a case report and the review of the basics




Achondroplasia, Fibroblast growth factor receptor 3, Rhizomelia, Skeletal dysplasia


The achondroplasia is a variant of short-limbed dwarfism. The word achondroplasia literally means without cartilage formation. However, in achondroplasia the problem is not in formation of cartilage but, in its conversion to bone (i.e. ossification). This deficient ossification is particularly seen in the long bones of arm and leg. The characteristic external appearance of people born with achondroplasia is short stature. The average height of an adult male with achondroplasia is 131 centimetres (4 feet, 4 inches), and the average height for adult females is 124 centimetres (4 feet, 1 inch). The trunk is of average size but the leg and upper arm is of short length. It is because the femur and humerus are relatively shorter in length. The range of movement at elbow is limited. The head is enlarged called macrocephaly and is with a prominent forehead. People with Achondroplasia are generally of normal intelligence. They have bowed legs and abnormal curvature of spine giving rise to lordosis or kyphosis. They may develop spinal stenosis, which is associated with pain, tingling and weakness in leg. This may cause difficulty in walking. The other health problems associated with Achondroplasia are episodes of apnoea, obesity and recurrent ear infection. The purpose of this study is to evaluate the cardinal phenotypic features in patient of Achondroplasia. It is also to assess the body physique, anthropometric measurements and to study the typical radiological signs in such patients as the main tool of diagnosis.

Author Biography

Sujan Narayan Agrawal, Department of Surgery, SBRKM Government Medical College, Jagdalpur (Bastar), Chhattisgarh


Department of Surgery


Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, et al. The population-based prevalence of Achondroplasia and Thanatophoric dysplasia in selected regions of the US. Am J Med Genet A. 2008;146A:2385-9.

Laederich MB, Horton WA. Achondroplasia: pathogenesis and implications for future treatment. Curr Opin Pediatr. 2010;22:516-23.

Ornitz DM. FGF signalling in the developing endochondral skeleton. Cytokine Growth Factor Rev. 2005;16:205-13.

Narayana J, Horton WA. FGFR3 biology and skeletal disease. Connect Tissue Res. 2015;56:427-33.

Deng C, Boris WA, Zhou F, Kuo A, Leder P. Fibroblast growth factor receptor 3 is a negative regulator of bone growth. Cell. 1996;84:911-21.

Eswarakumar VP, Lax I, Schlessinger J. Cellular signalling by fibroblast growth factor receptors. Cytokine Growth Factor Rev. 2005;16:139-49.

Klag KA, Horton WA. Advances in treatment of Achondroplasia and osteoarthritis. Hum Mol Genet. 2016;25(1):2-8.

Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, et al. Mutations in the Transmembrane Domain of FGFR3 Cause the Most Common Genetic Form of Dwarfism, Achondroplasia. Cell. 1994;78:335-42.

Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007;370:162-72.

Ponseti IV. The Ponseti Technique for Correction of Congenital Clubfoot. J Bone Joint Surg Am. 1970;52:701-16.

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;21:23-39.

Hecht JT, Butler KJ, Cott CL. Long-term neurological sequelae in Achondroplasia. Eur J Pediatr. 1984;143:58-60.

Ireland PJ, Donaghey S, Gill MJ, Zankl A, Ware RS, Pacey V, et al. Development in children with Achondroplasia: a prospective clinical cohort study. Dev Med Child Neurol. 2012;54:532-7.

Horton WA, Rotter JI, Rimoin DL, Scott CI, Hall JG. Standard growth curves for Achondroplasia. J Pediatr. 1978;93:435-8.

Etus V, Ceylan S. The role of endoscopic third ventriculostomy in the treatment of tri-ventricular hydrocephalus seen in children with achondroplasia. J Neurosurg. 2005;103:260-5.

Tunkel D, Alade Y, Kerbavez R, Smith B, Hardison RD, Fong HJ. Hearing loss in skeletal dysplasia patients. Am J Med Genet A. 2012;158A:1551-5.

Panda A, Gamanagatti S, Jana M, Gupta AK. Skeletal dysplasias: a radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol. 2014;6(10):808-25.

Jana M, Nair N, Gupta AK, Kabra M, Gupta N. Pelvic radiograph in skeletal dysplasias: an approach. Indian J Radiol Imaging. 2017;27:187-99.

Basse TT, GS. Lower extremity abnormalities in dwarfing conditions. Instr Course Lect. 1990;30:389.

Hamamci H, Hawran S, Sorensen BF. Achondroplasia and spinal cord lesion: three case report. Paraplegia. 1993;31:375.

Stoll C, Roth MP, Bigel P. A re-examination on parental age effect on the occurrence of new mutations for Achondroplasia. Prog Clin Biol Res. 1982;104:419-26.

Wilkin DJ, Szabo JK, Cameron R, Henderson S, Bellus GA, Mack ML, et al. Mutations in fibroblast growth-factor receptor 3 in sporadic cases of Achondroplasia occur exclusively on the paternally derived chromosome. Am J Hum Genet. 1998;63:711-6.






Case Reports