Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 29-03-2014
Symbol DSBQS
Location 17q25.3
Name Desbuquois syndrome
Other name(s)
  • micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
  • Corresponding gene CANT1
    Other symbol(s) DBQD
    Main clinical features
  • short stature, joint laxity, facial dysmorphism, advanced carpal and tarsal bone age, narrow chest, vertebral and metaphyseal abnormalities, hand abnormalities (phalangeal dislocations and extraossification distal to the second metacarpal ), in type 1, normal hand in type 2
  • in type 1 advanced carpal ossification and other distinctive features of the hand, including an extra-ossification center at the base of the proximal phalanx of the index and middle fingers; dislocation of the metacarpophalangeal joint of the index finger; and bifid distal phalanx of the thumb (PMID: 25252066))
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    nonsense   abnormal protein/loss of function