[MIM 608 361]

Prevalence: < 1/106. Autosomal recessive transmission of a mutation of the AGC1 gene (15q26.1)  that codes the aggrecan, the major proteoglycan of cartilage and cartilage growth plates. One of its roles is to allow the joint to withstand the mechanical stresses to which they are faced with (weight, movements).

Clinical picture:

-        short stature (< P5), stocky appearance

-        platyspondyly, sclerosis of the vertebral bodies

-        irregularities of the epiphyses

-        early arthrosis of large joints

Anesthetic implications:

short stature, early arthrosis

References :

-        Gibson BG, Briggs MD.
The aggrecanopathies: an evolving phenotypic spectrum of human genetic skeletal diseases.
Orphanet J Rare Diseases 2016; 11: 86. DOI 10.1186/s13023-016-0459-2

Updated: May 2017