spondylometaepiphyseal dysplasia, short limb-hand type

A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of ca

A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3.

Signs and symptoms

• Short finger
• Broad palm
• Broad long bones
• Platyspondyly
• Disproportionate short-limb short stature
• Depressed nasal ridge
• Short long bone
• Short palm
• Hypertelorism
• Concave nasal ridge

Also known as: SMED short limb-abnormal calcification type; SMED short limb-hand type; SMED type 2; SMED, type II; SMED-SL