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Other Names for this Disease
- Diaphragmatic hernia, abnormal face, and distal limb anomalies
- Moerman Van den berghe Fryns syndrome
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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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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 Fryns syndrome. Click on the link to view a sample search on this topic.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.