SNP Shot: Genomic Insights

Greenberg dysplasia is a serious and lethal fetal disorder distinguished by specific bone malformations. Infants with this condition do not survive to birth.

Individuals affected by Greenberg dysplasia exhibit abnormal bone development, resulting in a characteristic "moth-eaten" appearance on x-rays. Furthermore, the bones show unusual calcium deposits (ectopic calcification). They have significantly shortened limb bones and flattened vertebral bones (platyspondyly). Additional skeletal problems can include shortened ribs and extra digits (polydactyly). Fluid accumulation causes widespread swelling of the fetus's body (hydrops fetalis). Due to its key features, Greenberg dysplasia is also known as hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM).

Inheritance:

Greenberg dysplasia follows an autosomal recessive inheritance pattern. This means that an affected individual must inherit two copies of a mutated gene, one from each parent. Parents who each carry a single copy of the mutated gene usually do not exhibit symptoms of the condition themselves.