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.

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]

hypochondroplasia

[-kon′drōplā′zhə]
an inherited form of dwarfism that resembles a mild form of achondroplasia. It is relatively uncommon and is transmitted as an autosomal-dominant trait.

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]

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]

hypochondroplasia

chondrodysplasia.
References in periodicals archive ?
For Laurel and her family, it was also necessary to cope with the physical differences related to hypochondroplasia.
9:45 Catchin' a WAVE in the Search for New Hypochondroplasia Mutations, Fordyce G.
Among the 30 hypochondroplasia patients they've studied, 29 have a mutation at that particular nucleotide, she says.
1) It was reported that hypochondroplasia, achondroplasia and thanatophoric dysplasia are the different types of mutation in FGFR3 with hypochondroplasia being the mildest and TD, the most severe form.
The findings may also have implications for understanding human biology and disease as well as help in the uderstanding of a similar appearing growth disorder, called hypochondroplasia, or dwarfism.