Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
Type of disease: Rare conditions
HEM (hydrops fetalis, ectopic calcifications, “moth-eaten” skeletal dysplasia) is a very rare type of lethal skeletal dysplasia. According to the reported cases of HEM in the medical literature, the condition’s main features are hydrops fetalis, dwarfism with severely shortened limbs and relatively normal-sized hands and feet, a “moth-eaten” appearance of the skeleton, flat vertebral bodies and ectopic calcifications. HEM is an autosomal recessive condition caused by a mutation in the lamin B receptor (LBR) gene. No treatment or cure is currently known for HEM. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.