[MIM 607 131]

(syndrome of Al Gazali-Bakalinova)

Very rare: 2 families. Autosomal recessive transmission of a mutation of the KIF7 (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).

Clinical picture: normal stature but the joints are thick. Short neck, genu valgum. Macrocephaly (> P90) with prominent frontal bumps and hypertelorism, short neck, low set ears. Dysplasia of the epiphyses.

Anesthetic implications:

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