hypochondroplasia


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hypochondroplasia

 [hi″po-kon″dro-pla´zhah]
a common disorder of cartilage development transmitted as an autosomal dominant trait; clinical features resemble those of achondroplasia but are milder, such as short stature with a long trunk and short limbs, broad and short fingers; the face is normal in appearance.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

hy·po·chon·dro·pla·si·a

(hī'pō-kon'drō-plā'zē-ă), [MIM*146000]
A skeletal dysplasia characterized by dwarfism with features similar to but much milder than achondroplasia; the cranium and facies are normal; features not clinically evident until mid-childhood. Autosomal dominant inheritance, caused in some cases by mutation in the fibroblast growth factor receptor 3 (FGFR3) gene on chromosome 4p.
[hypo- + G. chondros, cartilage, + plasis, a molding]
Farlex Partner Medical Dictionary © Farlex 2012

hy·po·chon·dro·pla·si·a

(hī'pō-kon'drō-plā'zē-ă)
Dwarfism similar to achondroplasia, not evident until midchildhood; the cranium and facies are normal.
[hypo- + G. chondros, cartilage, + plasis, a molding]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

hy·po·chon·dro·pla·si·a

(hī'pō-kon'drō-plā'zē-ă) [MIM*146000]
Skeletal dysplasia characterized by dwarfism with features similar to but much milder than achondroplasia; cranium and facies are normal.
[hypo- + G. chondros, cartilage, + plasis, a molding]
Medical Dictionary for the Dental Professions © Farlex 2012
References in periodicals archive ?
In this study, we aimed to evaluate response to GH treatment in patients who had a definite diagnosis of hypochondroplasia by clinical, radiological and genetic examination, who also met the criteria for growth hormone deficiency and who received rhGH replacement therapy.
In this study, we evaluated the growth of patients with hypochondroplasia who were followed in our clinic between the years 2000 and 2017 and who showed an inadequate response to growth hormone stimulation tests.
Activating mutations of FGFR3, which have an effect on the negative regulation of cartilage growth are encountered in hypochondroplasia and achondroplasia (10).
In children with hypochondroplasia, there is no placebo-controlled study on the effects of growth hormone treatment on adult height.
The lack of change in disproportionality in patients with hypochondroplasia after GH therapy is a finding that suggests that the treatment does not have side effects.
In conclusion, this study showed that in GH deficient patients with hypochondroplasia, a standard dose of GH treatment was found to be sufficient to reach an increase in height just above 0.5 SD in the first year, which is acceptable, but not sufficient for the patients to achieve a sufficient increment in their final height.
Hight outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis.
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 1995;10:357-359.
Asn540Lys mutation in fibroblast growth factor 3 and phenotype in hypochondroplasia. Acta Paediatr 2000;89:1072-1076.
Clinical and genetic heterogeneity of hypochondroplasia. J Med Genet 1996;33:749-752.
Growth and growth hormone therapy in hypochondroplasia. Acta Paediatr Scand 1990;79:796-803.
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.