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Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
Other Names for this Disease
- Autosomal recessive lethal chondrodystrophy with congenital hydrops
- Greenberg dysplasia
- Greenberg skeletal dysplasia
- HEM dysplasia
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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.HEM (hydrops fetalis, ectopic calcifications, "moth-eaten" skeletal dysplasia) is a very rare type of lethal
Last updated: 7/17/2009
- Genetics Home Reference (GHR) contains information on Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia. This website is maintained by the National Library of Medicine.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia. Click on the link to view a sample search on this topic.