Mutations in TM7SF2 cause Greenberg skeletal dysplasia (a.k.a. hydrops-ectopic calcification-moth-eaten or HEM skeletal dysplasia), an autosomal recessive chondrodystrophy characterized by fetal hydrops, short limbs, and abnormal chondro-osseous ossification. The gene discussed is TM7SF2; the disease is Greenberg dysplasia.