FRNS
MCID: FRY002
MIFTS: 37

Fryns Syndrome (FRNS) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Fetal diseases, Nephrological diseases

Aliases & Classifications for Fryns Syndrome

Aliases & Descriptions for Fryns Syndrome:

Name: Fryns Syndrome 54 23 50 24 25 56 29 69
Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies 50 25
Diaphragmatic Hernia-Abnormal Face-Distal Limb Anomalies Syndrome 56
Nephrotic Syndrome - Frequently Relapsing 69
Moerman Van Den Berghe Fryns Syndrome 50
Frns 50

Characteristics:

Orphanet epidemiological data:

56
fryns syndrome
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;

HPO:

32
fryns syndrome:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 229850
Orphanet 56 ORPHA2059
MESH via Orphanet 43 C538070
UMLS via Orphanet 70 C0220730
ICD10 via Orphanet 34 Q87.8

Summaries for Fryns Syndrome

NIH Rare Diseases : 50 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 seizures, hypertelorism and short neck. An important gene associated with Fryns Syndrome is PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N). Affiliated tissues include kidney, lung 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 : 54 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal... (229850) more...

Wikipedia : 71 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in... more...

GeneReviews: NBK1459

Related Diseases for Fryns Syndrome

Graphical network of the top 20 diseases related to Fryns Syndrome:



Diseases related to Fryns Syndrome

Symptoms & Phenotypes for Fryns Syndrome

Symptoms by clinical synopsis from OMIM:

229850

Clinical features from OMIM:

229850

Human phenotypes related to Fryns Syndrome:

56 32 (show top 50) (show all 88)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 hypertelorism 56 32 Frequent (79-30%) HP:0000316
3 short neck 56 32 Very frequent (99-80%) HP:0000470
4 agenesis of corpus callosum 56 32 Frequent (79-30%) HP:0001274
5 high palate 56 32 Very frequent (99-80%) HP:0000218
6 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
7 coarse facial features 56 32 Frequent (79-30%) HP:0000280
8 corneal opacity 56 32 Frequent (79-30%) HP:0007957
9 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
10 anteverted nares 56 32 Frequent (79-30%) HP:0000463
11 gastroesophageal reflux 56 32 Occasional (29-5%) HP:0002020
12 cleft palate 56 32 Frequent (79-30%) HP:0000175
13 long philtrum 56 32 Very frequent (99-80%) HP:0000343
14 micrognathia 56 32 Very frequent (99-80%) HP:0000347
15 narrow chest 56 32 Occasional (29-5%) HP:0000774
16 severe global developmental delay 56 32 Very frequent (99-80%) HP:0011344
17 cryptorchidism 56 32 Frequent (79-30%) HP:0000028
18 wide intermamillary distance 56 32 Frequent (79-30%) HP:0006610
19 aplasia/hypoplasia of the nipples 56 32 Very frequent (99-80%) HP:0006709
20 thickened nuchal skin fold 56 32 Frequent (79-30%) HP:0000474
21 cerebral cortical atrophy 56 32 Frequent (79-30%) HP:0002120
22 aganglionic megacolon 56 32 Occasional (29-5%) HP:0002251
23 non-midline cleft lip 56 32 Frequent (79-30%) HP:0100335
24 broad forehead 56 32 Very frequent (99-80%) HP:0000337
25 wide mouth 56 32 Frequent (79-30%) HP:0000154
26 microphthalmia 56 32 Occasional (29-5%) HP:0000568
27 hypospadias 56 32 Occasional (29-5%) HP:0000047
28 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
29 multicystic kidney dysplasia 56 32 Very frequent (99-80%) HP:0000003
30 low-set, posteriorly rotated ears 56 32 Very frequent (99-80%) HP:0000368
31 anal atresia 56 32 Occasional (29-5%) HP:0002023
32 vesicoureteral reflux 56 32 Occasional (29-5%) HP:0000076
33 polyhydramnios 56 32 Frequent (79-30%) HP:0001561
34 tetralogy of fallot 56 32 Frequent (79-30%) HP:0001636
35 intestinal malrotation 56 32 Occasional (29-5%) HP:0002566
36 abnormality of the aortic arch 56 32 Occasional (29-5%) HP:0012303
37 abnormality of the cardiac septa 56 32 Frequent (79-30%) HP:0001671
38 short distal phalanx of finger 56 32 Frequent (79-30%) HP:0009882
39 tented upper lip vermilion 56 32 Very frequent (99-80%) HP:0010804
40 hydronephrosis 56 32 Occasional (29-5%) HP:0000126
41 hypoplastic fingernail 56 32 Very frequent (99-80%) HP:0001804
42 dandy-walker malformation 56 32 Occasional (29-5%) HP:0001305
43 congenital diaphragmatic hernia 56 32 Very frequent (99-80%) HP:0000776
44 omphalocele 56 32 Occasional (29-5%) HP:0001539
45 ectopic anus 56 32 Occasional (29-5%) HP:0004397
46 median cleft lip 56 32 Frequent (79-30%) HP:0000161
47 pulmonary hypoplasia 56 32 Very frequent (99-80%) HP:0002089
48 duodenal atresia 56 32 Occasional (29-5%) HP:0002247
49 bicornuate uterus 56 32 Occasional (29-5%) HP:0000813
50 low-set ears 32 HP:0000369

UMLS symptoms related to Fryns Syndrome:


seizures

Drugs & Therapeutics for Fryns Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic Analysis of Fraser Syndrome and Fryns Syndrome Completed NCT00032877

Search NIH Clinical Center for Fryns Syndrome

Genetic Tests for Fryns Syndrome

Genetic tests related to Fryns Syndrome:

id Genetic test Affiliating Genes
1 Fryns Syndrome 29 24

Anatomical Context for Fryns Syndrome

MalaCards organs/tissues related to Fryns Syndrome:

39
Kidney, Lung, Brain, Skin, Uterus, Eye

Publications for Fryns Syndrome

Articles related to Fryns Syndrome:

(show top 50) (show all 90)
id Title Authors Year
1
Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. ( 27980443 )
2016
2
Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome. ( 27064748 )
2016
3
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. ( 27038415 )
2016
4
Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity. ( 27300081 )
2016
5
Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? ( 26358559 )
2015
6
Atypical Fryns syndrome: clinical, radiological and pathological findings. ( 24827959 )
2014
7
Prenatal and postnatal findings in five cases of Fryns syndrome. ( 24996149 )
2014
8
Fryns syndrome with vertebral defects: a novel association in a Mexican infant. ( 24783652 )
2014
9
Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings. ( 23604607 )
2013
10
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands. ( 24357154 )
2013
11
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. ( 23338167 )
2013
12
Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia. ( 21259013 )
2011
13
Unusual facial cleft in Fryns syndrome: defect of stomodeum? ( 20681225 )
2010
14
Fryns syndrome with atypical findings--with large midline cleft on forehead but normal cranial MRI findings. ( 21290970 )
2010
15
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. ( 19800039 )
2009
16
Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects? ( 19449404 )
2009
17
Fryns syndrome: case report and review of the literature. ( 17960800 )
2008
18
Prenatal diagnosis of partial anomalous pulmonary venous connection in a patient with Fryns syndrome. ( 17324994 )
2007
19
Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins. ( 17384863 )
2007
20
Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1. ( 17602449 )
2007
21
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. ( 17103446 )
2006
22
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. ( 16760741 )
2006
23
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). ( 16831221 )
2006
24
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. ( 16333846 )
2006
25
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. ( 17036352 )
2006
26
Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? ( 16283673 )
2005
27
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. ( 16094260 )
2005
28
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. ( 16141010 )
2005
29
Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. ( 15580636 )
2005
30
Fryns syndrome: report of eight new cases. ( 15654233 )
2005
31
Fryns syndrome with osteochondrodysplasia. ( 15793837 )
2005
32
Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. ( 16440878 )
2005
33
Eye abnormalities in Fryns syndrome. ( 14994236 )
2004
34
A Fryns syndrome-like phenotype with mosaic t(1;22)(q12;p12) chromosomal translocation. ( 15057129 )
2004
35
Fryns syndrome: a review of the phenotype and diagnostic guidelines. ( 14735597 )
2004
36
A case of Fryns syndrome without diaphragmatic hernia and review of the literature. ( 15194956 )
2004
37
Fryns syndrome: a case associated with karyotype XO. ( 15323276 )
2004
38
Pathologic quiz case: hypoplastic digit, diaphragmatic hernia, and agenesis of the corpus callosum in a 21(5/7)-week fetus. Fryns syndrome. ( 14567736 )
2003
39
Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome? ( 12962292 )
2003
40
Expanding the limits of the Fryns syndrome. ( 12949980 )
2003
41
Documentation of anomalies not previously described in Fryns syndrome. ( 12494439 )
2003
42
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. ( 12784307 )
2003
43
Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemidiaphragmatic agenesis. ( 12047706 )
2002
44
Fryns syndrome in children with congenital diaphragmatic hernia. ( 12483630 )
2002
45
Fryns syndrome. ( 12215698 )
2002
46
Preserved neurobehavioral abilities in Lujan-Fryns syndrome. ( 11807907 )
2002
47
A fetus with pseudo Fryns syndrome and t(18;22) translocation. ( 11491314 )
2001
48
Ocular findings in Fryns syndrome. ( 11167240 )
2000
49
Discordant phenotype in monozygotic twins with Fryns syndrome. ( 10982481 )
2000
50
Variability in the phenotypic expression of fryns syndrome: A report of two sibships. ( 11146459 )
2000

Variations for Fryns Syndrome

Expression for Fryns Syndrome

Search GEO for disease gene expression data for Fryns Syndrome.

Pathways for Fryns Syndrome

GO Terms for Fryns Syndrome

Sources for Fryns Syndrome

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