Greenberg Dysplasia

Watchlist
Retrieved
2022-04-26
Source
Trials
Genes
Drugs

Greenberg dysplasia is a very severe disorder that that affects the bones. 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. Because of the very severe symptoms of Greenberg dysplasia, fetuses with this condition do not survive until birth.