hypochondroplasia


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]

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]