Fryns Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Nephrological diseases
Aliases & Descriptions for Fryns Syndrome:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (France),1-9/100000 (Europe); Age of onset: Antenatal,Infancy,Neonatal; Age of death: early childhood,embryofetal,infantile,stillbirth
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Nephrological diseases
NIH Rare Diseases:47 Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many indiivduals with this condition have defects of the diaphragm such as a congenital 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. survival beyond the neonatal period is rare. The cause of Fryns syndrome is not known, but it is thought to be genetic and appears to be inherited in an autosomal recessive manner. Treatment may involve a team of specialists and generally involves surgical correction of internal anomalies like diaphramatic hernia. Last updated: 9/25/2016
MalaCards based summary: Fryns Syndrome, also known as diaphragmatic hernia, abnormal face, and distal limb anomalies, is related to lujan-fryns syndrome and cartwright nelson fryns syndrome, and has symptoms including multicystic kidney dysplasia, broad forehead and long philtrum. An important gene associated with Fryns Syndrome is PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N). Affiliated tissues include lung, kidney and brain.
Genetics Home Reference:25 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.
OMIM:51 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal... (229850) more...
Wikipedia:70 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in... more...
GeneReviews for NBK1459
Human phenotypes related to Fryns Syndrome:63 53 (show all 95)
UMLS symptoms related to Fryns Syndrome:seizures, observation of narrowing of palpebral fissure
MalaCards organs/tissues related to Fryns Syndrome:35
Lung, Kidney, Brain, Eye, Uterus, Skin
Articles related to Fryns Syndrome:(show top 50) (show all 90)
Search GEO for disease gene expression data for Fryns Syndrome.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet