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Genetic and Rare Diseases Information Center (GARD)

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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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.
Last updated: 7/17/2009

References

  1. Madazli R, Aksoy F, Ocak V, Atasu T. Detailed ultrasonographic findings in Greenberg dysplasia. Prenat Diagn. 2001;
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Basic Information

  • 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

  • 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.
Other Names for this Disease
  • Autosomal recessive lethal chondrodystrophy with congenital hydrops
  • Greenberg dysplasia
  • Greenberg skeletal dysplasia
  • HEM
  • HEM dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.