Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects

Definition:

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD), also termed Larsen-like syndrome, is an autosomal recessive disease that is caused by the mutations in the B3GAT3. B3GAT3 encodes key enzyme involving in glycosaminoglycan biosyntheses. The mutation results in decreased levels of dermatan sulfate, chondroitin sulfate, and heparan sulfate proteoglycans. The affected individuals showed dysmorphic faces, bilateral dislocations of the elbows, hips, and knees, and short stature, as well as cardiovascular defects.

References:

[1]. Julia E von Oettingen, et al. Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype. Am J Med Genet A. 2014 Jun;164A(6):1580-6. [Content Brief]

[2]. Sevjidmaa Baasanjav, et al. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet. 2011 Jul 15;89(1):15-27. [Content Brief]

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