Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
Other Names for this Disease
- HEM dysplasia
- HEM/Greenberg dysplasia
- Greenberg skeletal dysplasia
- Greenberg 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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a 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.