Greenberg dysplasia

Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth.

The bones of affected individuals do not develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray images. In addition, the bones have abnormal calcium deposits (ectopic calcification). Affected individuals have extremely short bones in the arms and legs and abnormally flat vertebrae (platyspondyly). Other skeletal abnormalities may include short ribs and extra fingers (polydactyly). In addition, affected fetuses have extensive swelling of the body caused by fluid accumulation (hydrops fetalis). Greenberg dysplasia is also called hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), which reflects the condition's most common features.

Other names

Chondrodystrophy, hydropic and prenatally lethal type; Greenberg skeletal dysplasia; HEM dysplasia; HEM skeletal dysplasia; Hydrops – ectopic calcification – moth-eaten skeletal dysplasia; Moth-eaten skeletal dysplasia

Inheritance pattern

Autosomal recessive

Related genes

LBR

Source: MedlinePlus Genetics, U.S. National Library of Medicine.