spondyloepimetaphyseal dysplasia with joint laxity type 3

A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_bas

A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2.

Signs and symptoms

• Carpal bone hypoplasia
• Narrow vertebral interpedicular distance
• Patellar dislocation
• Knee dislocation
• Irregular vertebral endplates
• Scoliosis
• Delayed ability to walk
• Joint hypermobility
• Dislocated radial head
• Hip dislocation

Also known as: SEMDJL3