Diaphanospondylodysostosis (BMPER)

Diaphanospondylodysostosis is an autosomal recessive disorder caused by pathogenic variants in the gene BMPER. The onset of this condition occurs before birth, and symptoms include severe skeletal defects such as a short wide thorax, reduced number of ribs with abnormal rib structure and shape, narrow pelvis, and distinctive craniofacial features. Extraskeletal findings include nephroblastomatosis (multiple embryonic rests of tissue within the kidney) with cystic kidneys and cleft palate. Most individuals are stillborn or die shortly after birth due to respiratory difficulties. 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):