Achondroplasia: Really rhizomelic?

Am J Med Genet A. 2016 Aug;170(8):2039-43. doi: 10.1002/ajmg.a.37776. Epub 2016 Jun 3.


Achondroplasia is the most common form of short limb dwarfism in humans. The shortening of the limb lengths in achondroplasia is widely described as "rhizomelic." While this appearance may be convincing clinically, the description is not necessarily true or helpful radiologically. The aims of this study, were therefore, to determine whether rhizomelic shortening is a true feature of achondroplasia at diagnosis in infancy. Humeral, radial, femoral, and tibial diaphyseal lengths were recorded by two independent observers from 22 skeletal surveys of infants with achondroplasia and compared with 150 normal age-matched control subjects. Upper and lower limb bone length ratios (radial/humeral and tibial/femoral lengths, respectively) in both groups were compared using an unpaired t-test. Mean upper limb length ratios were statistically higher within the achondroplasia group at 0.87 ± 0.04 (n = 22, mean age 70 ± 94 days) compared to normal controls at 0.79 ± 0.02 (n = 150, mean age 113 days ± 88 days; P < 0.0001). Lower limb length ratios were not significantly different between groups (0.84 ± 0.04 vs. 0.83 ± 0.02, P = 0.46). There was good inter-observer agreement of limb length measurements, with an average measurement difference of 0.1 ± 1.4 mm. In conclusion, infants with achondroplasia demonstrate statistically significant rhizomelic shortening within the upper limbs, but not lower limbs at diagnosis, compared to normal controls. The term "rhizomelic shortening" in relation to achondroplasia should be reserved when describing upper limb proportions. © 2016 Wiley Periodicals, Inc.

Keywords: achondroplasia; limb proportions; limb ratio; rhizomelic; skeletal dysplasia.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Achondroplasia / diagnosis*
  • Achondroplasia / genetics*
  • Body Weights and Measures
  • Bone Diseases, Developmental / diagnosis*
  • Case-Control Studies
  • Female
  • Femur / abnormalities*
  • Heterozygote
  • Humans
  • Humerus / abnormalities*
  • Infant
  • Infant, Newborn
  • Lower Extremity / pathology
  • Male
  • Mutation
  • Radiography
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics
  • Upper Extremity / pathology


  • Receptor, Fibroblast Growth Factor, Type 3

Supplementary concepts

  • Rhizomelic syndrome