Hypochondroplasia

Hypochondroplasia is a type of short-limb dwarfism with shortening especially of the ends of the limbs (termed rhizomelic dwarfism). The short stature and limb shortening can be mild. The diagnosis is often made at 2-4 years of age when the child falls off the growth curve and the rhizomelic shortening is noted. Diagnosis is made by exam and x-rays. Infants with hypochondroplasia have low normal birth weights and lengths. The forehead is often prominent. The extremities are short with milder shortening of the proximal portions as compared to achondroplasia. Mild bow-legs can occur. Range of motion at the elbows is often limited with limitation of extension and supination. The fingers are short. The back shows increased curve of the low back (lumbar lordosis). The final adult height is 125-160cm (49-63 inches). Hypochondroplasia is inherited in an autosomal dominant condition. Each child born to a person with hypochondroplasia has a 50% or 1 in 2 chance of having hypochondroplasia. Many children with hypochondroplasia are born to average-sized parents. In these cases, the hypochondroplasia is due to a new mutation or genetic change. The gene for hypochondroplasia has been found. It is the same gene as is responsible for achondroplasia and is called the fibroblast growth factor receptor 3 (FGFR3). Although the same gene causes these two conditions, different changes occur in that gene (FGFR3) to produce the two different disorders.

* * *

A skeletal dysplasia characterized by dwarfism with features similar to but much milder than achondroplasia; the skull 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·sia (hi″po-kon″dro-plaґzhə) a common autosomal dominant chondrodystrophy resembling achondroplasia but with milder clinical features, which include short stature with a long trunk and short limbs, broad and short fingers, and a normal face. It is genetically heterogeneous, with most cases being caused by mutation in the fibroblast growth factor receptor 3 (FGFR3) gene (locus: 4p16.3).