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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. This condition is caused by mutations in the INPPL1 the gene. It is inherited in an autosomal recessive manner.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
Last updated: 3/18/2014
- INPPL1. Genetics Home Reference (GHR). March 10, 2012; http://www.ghr.nlm.nih.gov/gene/INPPL1. Accessed 3/18/2014.
- Opsismodysplasia; OPMSD. Online Mendelian Inheritance in Man (OMIM). March 7, 2013; http://omim.org/entry/258480. Accessed 3/18/2014.
- 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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- Genetics Home Reference (GHR) contains information on Opsismodysplasia. This website is maintained by the National Library of Medicine.
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.