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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
- HEM dysplasia
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Overview
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.[1] No treatment or cure is currently known for HEM.
References
- Madazli R, Aksoy F, Ocak V, Atasu T. Detailed ultrasonographic findings in Greenberg dysplasia. Prenat Diagn. 2001.
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General Information
- Genetics Home Reference (GHR) contains information on Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia. Click on the link to go to OMIM and review these resources.