Spondylometaepiphyseal Dysplasia (DDR2)

Spondylometaepiphyseal dysplasia (DDR2-related) is a rare musculoskeletal autosomal recessive disorder caused by pathogenic variants in DDR2. The onset of this condition occurs before birth and signs of the disorder can typically be observed on prenatal ultrasound. Individuals have short stature, short limbs, a narrow chest with pectus excavatum, brachydactyly, and distinct craniofacial features. Skeletal findings seen on imaging may include epiphyseal stippling, metaphyseal flaring, platyspondyly, and abnormal calcification. Premature death in infancy to adolescence is common and is often due to respiratory complications or spinal cord compression. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):