Very rare. Aggrecanopathies are a group of disorders with, as common point, a qualitative or quantitative deficit of aggrecan. Aggrecan is the major proteoglycan of cartilage and cartilage growth plates. One of its roles is to allow the joint to withstand the mechanical stresses they are facing (weight, movements).

These diseases are:

-        spondyloepiphyseal dysplasia type Kimberley [MIM 608 361]

-        spondylometaepiphyseal dysplasia type aggrecan [MIM 612 813] (see this term)

-        macrocephaly with multiple epiphyseal dysplasia and peculiar features [MIM 607 131]

-        autosomal dominant dissecting osteochondritis with short stature and early arthrosis [MIM 165 800]

-        the idiopathic short stature

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