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https://www.omim.org › entry
Hypochondroplasia HCH is an autosomal dominant disorder characterized by short limbed dwarfism lumbar lordosis short and broad bones and caudad narrowing of the

https://medlineplus.gov › genetics › condition › hypochondroplasia
Hypochondroplasia is a form of short limbed dwarfism Explore symptoms inheritance genetics of this condition

https://www.genomicseducation.hee.nhs.uk › ... › hypochondroplasia
Hypochondroplasia HCH is a type of skeletal dysplasia with similar features to achondroplasia though features are milder It is caused by pathogenic variants in the FGFR3 gene

https://www.sciencedirect.com › science › chapter › edited-volume › pii
Hypochondroplasia is milder than achondroplasia They can develop significant spinal stenosis later in life and they exhibit an increased incidence of developmental delays and epilepsy

https://www.orpha.net › en › disease › detail
Hypochondroplasia is diagnosed by the recognition of characteristic clinical and radiologic findings that remain controversial DNA based testing is possible and about 70 of affected individuals are

https://link.springer.com › rwe
Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene Journal of Medical Genetics 37 220 224

https://arupconsult.com › reference › genereviews-hypochondroplasia
Bober MB Bellus GA Nikkel SM et al Hypochondroplasia In Adam MP Ardinger HH Pagon RA et al eds GeneReviews University of Washington Seattle Last update Sep 2013 accessed Apr 2020

https://jmg.bmj.com › content
Reviewing the clinical and radiological manifestations of the disease a posteriori we observed that the N540K mutation was associated with relative macrocrania with a high and large forehead and short

https://en.wikipedia.org › wiki › Hypochondroplasia
Treatment of hypochondroplasia usually takes the form of orthopedic surgery and physical therapy Genetic counseling is advised for individuals and their families