FRNS
MCID: FRY002
MIFTS: 37

Fryns Syndrome (FRNS) malady

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

Aliases & Classifications for Fryns Syndrome

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Sources:
23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Fryns Syndrome:

Name: Fryns Syndrome 52 23 48 24 25 54 27 68
Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies 48 25
Diaphragmatic Hernia-Abnormal Face-Distal Limb Anomalies Syndrome 54
 
Nephrotic Syndrome - Frequently Relapsing 68
Moerman Van Den Berghe Fryns Syndrome 48
Frns 48

Characteristics:

Orphanet epidemiological data:

54
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:

64
fryns syndrome:
Inheritance: autosomal recessive inheritance
Mortality/Aging: stillbirth

Classifications:



External Ids:

OMIM52 229850
Orphanet54 ORPHA2059
MESH via Orphanet40 C538070
UMLS via Orphanet69 C0220730
ICD10 via Orphanet31 Q87.8

Summaries for Fryns Syndrome

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NIH Rare Diseases:48 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, seizures and Array. An important gene associated with Fryns Syndrome is PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N). Affiliated tissues include kidney, brain and lung.

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:52 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 for NBK1459

Related Diseases for Fryns Syndrome

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



Diseases related to fryns syndrome

Symptoms & Phenotypes for Fryns Syndrome

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Symptoms by clinical synopsis from OMIM:

229850

Clinical features from OMIM:

229850

Human phenotypes related to Fryns Syndrome:

 54 64 (show all 88)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia64 54 Very frequent (99-80%) HP:0000003
2 cryptorchidism64 54 Frequent (79-30%) HP:0000028
3 hypospadias64 54 Occasional (29-5%) HP:0000047
4 vesicoureteral reflux64 54 Occasional (29-5%) HP:0000076
5 hydronephrosis64 54 Occasional (29-5%) HP:0000126
6 wide mouth64 54 Frequent (79-30%) HP:0000154
7 median cleft lip64 54 Frequent (79-30%) HP:0000161
8 cleft palate64 54 Frequent (79-30%) HP:0000175
9 high palate64 54 Very frequent (99-80%) HP:0000218
10 coarse facial features64 54 Frequent (79-30%) HP:0000280
11 hypertelorism64 54 Frequent (79-30%) HP:0000316
12 broad forehead64 54 Very frequent (99-80%) HP:0000337
13 long philtrum64 54 Very frequent (99-80%) HP:0000343
14 micrognathia64 54 Very frequent (99-80%) HP:0000347
15 low-set, posteriorly rotated ears64 54 Very frequent (99-80%) HP:0000368
16 wide nasal bridge64 54 Very frequent (99-80%) HP:0000431
17 anteverted nares64 54 Frequent (79-30%) HP:0000463
18 short neck64 54 Very frequent (99-80%) HP:0000470
19 thickened nuchal skin fold64 54 Frequent (79-30%) HP:0000474
20 microphthalmia64 54 Occasional (29-5%) HP:0000568
21 narrow chest64 54 Occasional (29-5%) HP:0000774
22 congenital diaphragmatic hernia64 54 Very frequent (99-80%) HP:0000776
23 bicornuate uterus64 54 Occasional (29-5%) HP:0000813
24 intellectual disability64 54 Very frequent (99-80%) HP:0001249
25 seizures64 54 Frequent (79-30%) HP:0001250
26 agenesis of corpus callosum64 54 Frequent (79-30%) HP:0001274
27 dandy-walker malformation64 54 Occasional (29-5%) HP:0001305
28 omphalocele64 54 Occasional (29-5%) HP:0001539
29 polyhydramnios64 54 Frequent (79-30%) HP:0001561
30 tetralogy of fallot64 54 Frequent (79-30%) HP:0001636
31 abnormality of the cardiac septa64 54 Frequent (79-30%) HP:0001671
32 abnormality of the aorta54 Occasional (29-5%)
33 hypoplastic fingernail64 54 Very frequent (99-80%) HP:0001804
34 gastroesophageal reflux64 54 Occasional (29-5%) HP:0002020
35 anal atresia64 54 Occasional (29-5%) HP:0002023
36 pulmonary hypoplasia64 54 Very frequent (99-80%) HP:0002089
37 ventriculomegaly54 Frequent (79-30%)
38 cerebral cortical atrophy64 54 Frequent (79-30%) HP:0002120
39 duodenal atresia64 54 Occasional (29-5%) HP:0002247
40 aganglionic megacolon64 54 Occasional (29-5%) HP:0002251
41 intestinal malrotation64 54 Occasional (29-5%) HP:0002566
42 clinodactyly of the 5th finger64 54 Frequent (79-30%) HP:0004209
43 ectopic anus64 54 Occasional (29-5%) HP:0004397
44 wide intermamillary distance64 54 Frequent (79-30%) HP:0006610
45 aplasia/hypoplasia of the nipples64 54 Very frequent (99-80%) HP:0006709
46 corneal opacity64 54 Frequent (79-30%) HP:0007957
47 short distal phalanx of finger64 54 Frequent (79-30%) HP:0009882
48 tented upper lip vermilion64 54 Very frequent (99-80%) HP:0010804
49 severe global developmental delay64 54 Very frequent (99-80%) HP:0011344
50 abnormality of the aortic arch64 54 Occasional (29-5%) HP:0012303
51 non-midline cleft lip64 54 Frequent (79-30%) HP:0100335
52 bifid scrotum64 HP:0000048
53 shawl scrotum64 HP:0000049
54 ureteral duplication64 HP:0000073
55 renal agenesis64 HP:0000104
56 renal cyst64 HP:0000107
57 cleft upper lip64 HP:0000204
58 microretrognathia64 HP:0000308
59 low-set ears64 HP:0000369
60 broad neck64 HP:0000475
61 blepharophimosis64 HP:0000581
62 thin ribs64 HP:0000883
63 broad ribs64 HP:0000885
64 single transverse palmar crease64 HP:0000954
65 prominent fingertip pads64 HP:0001212
66 large for gestational age64 HP:0001520
67 ventricular septal defect64 HP:0001629
68 atrial septal defect64 HP:0001631
69 polysplenia64 HP:0001748
70 small nail64 HP:0001792
71 anonychia64 HP:0001798
72 rocker bottom foot64 HP:0001838
73 esophageal atresia64 HP:0002032
74 arrhinencephaly64 HP:0002139
75 meckel diverticulum64 HP:0002245
76 thoracic hypoplasia64 HP:0005257
77 ectopic pancreatic tissue64 HP:0006278
78 hypoplasia of olfactory tract64 HP:0007036
79 hypoplasia of the optic tract64 HP:0007096
80 opacification of the corneal stroma64 HP:0007759
81 absent left hemidiaphragm64 HP:0009112
82 joint contracture of the hand64 HP:0009473
83 proximal placement of thumb64 HP:0009623
84 short thumb64 HP:0009778
85 facial hirsutism64 HP:0009937
86 chylothorax64 HP:0010310
87 abnormality of the helix64 HP:0011039
88 camptodactyly64 HP:0012385

UMLS symptoms related to Fryns Syndrome:


seizures

Drugs & Therapeutics for Fryns Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Analysis of Fraser Syndrome and Fryns SyndromeCompletedNCT00032877

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Genetic Tests for Fryns Syndrome

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Genetic tests related to Fryns Syndrome:

id Genetic test Affiliating Genes
1 Fryns Syndrome27 24

Anatomical Context for Fryns Syndrome

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MalaCards organs/tissues related to Fryns Syndrome:

36
Kidney, Brain, Lung, Uterus, Skin, Eye

Publications for Fryns Syndrome

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Articles related to Fryns Syndrome:

(show top 50)    (show all 90)
idTitleAuthorsYear
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

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Expression for genes affiliated with Fryns Syndrome

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Search GEO for disease gene expression data for Fryns Syndrome.

Pathways for genes affiliated with Fryns Syndrome

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GO Terms for genes affiliated with Fryns Syndrome

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Sources for Fryns Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet