EXOC6B

Parents

Spondyloepimetaphyseal dysplasia with joint laxity, type 3 is an autosomal recessive disorder caused due to loss of function of both the copies of EXOC6B gene present on chromosome 2. Till date six individuals from four families with different ethnicities are reported.

Individuals affected with SEMDJL3 have multiple joint dislocations, joint laxity, short height, abnormal curvature of spine, difficulty in walking and could be wheel chair bound.