Other Names for this Disease
- Moerman Van den berghe Fryns syndrome
- Diaphragmatic hernia, abnormal face, and distal limb anomalies
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diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move into the chest, which can result in pulmonary hypoplasia (underdevelopment of the lungs). Other signs and symptoms may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. Most affected individuals die before birth or in early infancy. The cause of the condition is not known, but it is thought to be genetic and appears to be inherited in an autosomal recessive manner.Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many affected individuals have a defect in the diaphragm muscle such as a congenital
Last updated: 11/29/2011
- Fryns syndrome. Genetics Home Reference. May 2010; http://ghr.nlm.nih.gov/condition/fryns-syndrome.
- Genetics Home Reference (GHR) contains information on Fryns syndrome. 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 Fryns syndrome. Click on the link to view a sample search on this topic.