Greenberg dysplasia

Disease Overview

Greenberg dysplasia is a very severe disorder that that affects the bones.[12088] It is called a skeletal dysplasia because the bones do not develop properly. This condition is sometimes called HEM based on the main features of Hydrops fetalis, Ectopic calcifications, and “Moth-eaten” appearance of the skeleton. Greenberg dysplasia is an autosomal recessive condition caused by a mutation in the lamin B receptor (LBR) gene.[12086] Because of the very severe symptoms of Greenberg dysplasia, fetuses with this condition do not survive until birth. 

Synonyms

• HEM
• HEM dysplasia
• HEM/Greenberg dysplasia
• Greenberg skeletal dysplasia
• Autosomal recessive lethal chondrodystrophy with congenital hydrops
• Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
• Hydrops-ectopic calcification-motheaten syndrome
• Skeletal dysplasia, Greenberg type