Spondyloepimetaphyseal dysplasia with joint laxity, type 3 (SEMDJL3) is an autosomal recessive disorder which is caused by biallelic loss-of-function variants in EXOC6B gene.
This disorder is characterized by multiple joint dislocations mainly involving the knee and hip, severe joint laxity, spine deformities, gracile metacarpal and metatarsals, delayed bone age and short stature.
It is an ultra-rare condition with six affected individuals from four unrelated families reported till date.
EXOC6B