Fryns Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases
Aliases & Descriptions for Fryns Syndrome:
Orphanet epidemiological data:52
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
NIH Rare Diseases:46 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 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. 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 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, and related mouse phenotype embryo.
Genetics Home Reference:24 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:50 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal... (229850) more...
Wikipedia:69 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in... more...
GeneReviews summary for NBK1459
Symptoms by clinical synopsis from OMIM:229850
Clinical features from OMIM:229850
Symptoms:52 (show all 51)
HPO human phenotypes related to Fryns Syndrome:(show all 105)
UMLS symptoms related to Fryns Syndrome:seizures, observation of narrowing of palpebral fissure
MalaCards organs/tissues related to Fryns Syndrome:34
Lung, Kidney, Brain, Eye, Uterus, Skin
Articles related to Fryns Syndrome:(show top 50) (show all 89)
Search GEO for disease gene expression data for Fryns Syndrome.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet