[MIM 607 131]

Very rare: 15-20/100,000 in Sweden. Autosomal dominant transmission of a mutation of the ACHAN (15q26.1) gene that codes for 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 (weight, movements).
Disease manifests in late childhood and adolescence by the separation of the cartilage and  subchondral bone of nearby tissues: this results in case of a foreign body ("articular mouse") in some joints: knee, ankle, elbow.

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