Fryns Syndrome (FRNS) malady
Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories
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21Genetics Home Reference, 42NIH Rare Diseases, 65Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 diaphragmatic herniaÂ (a hole in the diaphragm present at birth). this may allow the stomach and intestines to move into the chest, which can result inÂ 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;Â 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 anÂ autosomal recessive manner. last updated: 11/29/2011
MalaCards based summary: Fryns Syndrome, also known as diaphragmatic hernia, abnormal face, and distal limb anomalies, is related to lujan fryns syndrome and congenital diaphragmatic hernia, and has symptoms including broad forehead, micrognathia/retrognathia/micrognathism/retrognathism and broad nose/nasal bridge. An important gene associated with Fryns Syndrome is MED12 (mediator complex subunit 12). Affiliated tissues include kidney, lung and brain.
Genetics Home Reference:21 Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose.
Wikipedia:65 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in... more...
Description from OMIM:46 229850
GeneReviews summary for fryns
Fryns Syndrome, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
Symptoms by clinical synopsis from OMIM:229850
Clinical features from OMIM:229850
Symptoms:48 (show all 51)
HPO human phenotypes related to Fryns Syndrome:(show all 107)
MalaCards organs/tissues related to Fryns Syndrome:32
Kidney, Lung, Brain, Testes, Bone, Skin, Uterus, Eye
Articles related to Fryns Syndrome:(show top 50) (show all 85)
Search GEO for disease gene expression data for Fryns Syndrome.
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet