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Multiple pterygium syndrome lethal type


Other Names for this Disease

  • Lethal multiple pterygium syndrome
  • LMPS
  • Pterygium syndrome multiple lethal type
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Overview

Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits, and fingers.[1]  Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, and bone fractures. Both X-linked and autosomal recessive inheritance have been proposed.[1][2] Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.[2]
Last updated: 7/21/2011

References

  1. Multiple pterygium syndrome, lethal type. Orphanet. 2006; http://www.orphanet.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=33108. Accessed 7/21/2011.
  2. Multiple pterygium syndrome, lethal type. Online Mendelian Inheritance of Man (OMIM). April 2008; http://www.ncbi.nlm.nih.gov/omim/253290. Accessed 7/21/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Multiple pterygium syndrome lethal type. 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 Multiple pterygium syndrome lethal type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Lethal multiple pterygium syndrome
  • LMPS
  • Pterygium syndrome multiple lethal type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.