Craniometaphyseal dysplasia, autosomal recessive type
Other Names for this Disease
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 The condition is caused by mutations in the GJA1 gene. As the name suggests, it is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive, and may include surgery to relieve cranial pressure and correct facial deformities.Autosomal recessive craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bone in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves.
Last updated: 4/11/2016
- Craniometaphyseal dysplasia. Genetics Home Reference (GHR). February 2009; https://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia.
- CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE. Online Mendelian Inheritance in Man (OMIM). September 6, 2013; http://www.omim.org/entry/218400.
- Craniometaphyseal Dysplasia. National Organization for Rare Disorders (NORD). 2005; http://rarediseases.org/rare-diseases/craniometaphyseal-dysplasia/.
- Genetics Home Reference (GHR) contains information on Craniometaphyseal dysplasia, autosomal recessive type. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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 Craniometaphyseal dysplasia, autosomal recessive type. Click on the link to view a sample search on this topic.