Greenberg dysplasia

Greenberg dysplasia is a very rare and lethal skeletal disorder that affects fetal development. It is marked by the presence of fetal hydrops, very short limbs, and abnormal calcification in developing bones. These features are visible during pregnancy and indicate a serious disruption in skeletal formation. This condition is characterized by early in utero lethality, meaning that fetuses with this diagnosis are not expected to survive. The abnormal development observed in Greenberg dysplasia stems from severe changes in how bones and cartilage are formed.

People with Greenberg dysplasia show signs such as fetal hydrops (an abnormal buildup of fluid), very short limbs, and unusual patterns of bone calcification. These symptoms are typically observed during the prenatal period.

Greenberg dysplasia is caused by changes in a gene known as LBR. It is inherited in an autosomal recessive pattern, which means that an affected fetus inherits a change in this gene from both parents.

Information about treatment is currently limited for this condition.

The outlook for Greenberg dysplasia is poor. Affected fetuses are considered nonviable due to severe developmental abnormalities that lead to early death in utero.

Information about research is currently limited for this condition.