Recessive homozygous c.4910G>A mutations of LRP4 have been recently discovered by clinical exome sequencing to be associated to unexplained KH in two siblings affected by Cenani-Lenz syndactyly, characterized by skeletal abnormalities, dysmorphisms, renal hypoplasia, deafness, congenital cataract (104). This evidence concerns the gene LRP4 and renal hypoplasia.