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Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
The milder disorder, hypochondroplasia, is allelic to achondroplasia; ‘compound heterozygotes’ have been recorded when one parent has achondroplasia and the other hypochondroplasia. Although most patients with hypochondroplasia have few physical problems and are mentally normal, a small number of cases with mental retardation have been reported. Also allelic to both conditions is the severe thanatophoric dysplasia. All three conditions are caused by (distinct) variants in one of the fibroblast growth factor receptor genes (FGFR3).
Endocrinology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Mehul Dattani, Catherine Peters
Hypochondroplasia patients usually present with short stature in relation to mid-parental target height centile. The growth rate is initially normal, with a compromised pubertal growth spurt. Skeletal abnormalities are characteristic. Disproportion may only be apparent in puberty, although more severe cases may present earlier with disproportion (Fig. 13.20). Family history often reveals disproportionate short stature in one or both parents.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Incidence: the mild end of the hypochondroplasia phenotypic spectrum may overlap with normal individuals of short stature, making it difficult to establish a definitive clinical diagnosis. Ascertainment is problematic as many affected individuals present with no symptoms other than short stature and do not seek medical intervention. However HCH is a relatively common disorder that may approach the prevalence of achondroplasia (1/15 000 to 1/40 000 live births).
Emerging therapies for Achondroplasia: changing the rules of the game
Published in Expert Opinion on Emerging Drugs, 2021
Smitha Kumble, Ravi Savarirayan
The future of the field includes the possibility of combination drug therapies to maximize clinical benefit and the emergence of gene therapies for achondroplasia. It is likely that these therapies might also be of benefit to other related skeletal dysplasia such as hypochondroplasia and thanatophoric dysplasia and potentially to other children with idiopathic forms of short stature, irrespective of their genetic etiology.