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Genetic and Rare Diseases Information Center (GARD)

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Opsismodysplasia


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Overview


Opsismodysplasia is a rare skeletal dysplasia characterized by congenital short stature and characteristic craniofacial abnormalities. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel (the space between the front bones of the skull), and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Children with opsismodysplasia are at an increased risk for respiratory infections and respiratory failure.[1][2][3] This condition is caused by mutations in the INPPL1 the gene. It is inherited in an autosomal recessive manner.[1][2]
Last updated: 3/18/2014

References

  1. INPPL1. Genetics Home Reference (GHR). March 10, 2012; http://www.ghr.nlm.nih.gov/gene/INPPL1. Accessed 3/18/2014.
  2. Opsismodysplasia; OPMSD. Online Mendelian Inheritance in Man (OMIM). March 7, 2013; http://omim.org/entry/258480. Accessed 3/18/2014.
  3. Le Merrer M. Opsismodysplasia. Orphanet. September 2009; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=553. Accessed 3/18/2014.
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Basic Information

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 Opsismodysplasia. Click on the link to view a sample search on this topic.