MCID: FRY002
MIFTS: 36

Fryns Syndrome 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 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: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:

 64 54 (show all 95)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia64 54 hallmark (90%) Very frequent (99-80%) HP:0000003
2 broad forehead64 54 hallmark (90%) Very frequent (99-80%) HP:0000337
3 long philtrum64 54 hallmark (90%) Very frequent (99-80%) HP:0000343
4 micrognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000347
5 low-set, posteriorly rotated ears64 54 hallmark (90%) Very frequent (99-80%) HP:0000368
6 short neck64 54 hallmark (90%) Very frequent (99-80%) HP:0000470
7 congenital diaphragmatic hernia64 54 hallmark (90%) Very frequent (99-80%) HP:0000776
8 anonychia64 hallmark (90%) HP:0001798
9 aplasia/hypoplasia of the lungs64 hallmark (90%) HP:0006703
10 aplasia/hypoplasia of the nipples64 54 hallmark (90%) Very frequent (99-80%) HP:0006709
11 tented upper lip vermilion64 54 hallmark (90%) Very frequent (99-80%) HP:0010804
12 cognitive impairment64 hallmark (90%) HP:0100543
13 cryptorchidism64 54 typical (50%) Frequent (79-30%) HP:0000028
14 wide mouth64 54 typical (50%) Frequent (79-30%) HP:0000154
15 median cleft lip64 54 typical (50%) Frequent (79-30%) HP:0000161
16 cleft palate64 54 typical (50%) Frequent (79-30%) HP:0000175
17 coarse facial features64 54 typical (50%) Frequent (79-30%) HP:0000280
18 hypertelorism64 54 typical (50%) Frequent (79-30%) HP:0000316
19 anteverted nares64 54 typical (50%) Frequent (79-30%) HP:0000463
20 thickened nuchal skin fold64 54 typical (50%) Frequent (79-30%) HP:0000474
21 seizures64 54 typical (50%) Frequent (79-30%) HP:0001250
22 polyhydramnios64 54 typical (50%) Frequent (79-30%) HP:0001561
23 tetralogy of fallot64 54 typical (50%) Frequent (79-30%) HP:0001636
24 abnormality of the cardiac septa64 54 typical (50%) Frequent (79-30%) HP:0001671
25 cerebral cortical atrophy64 54 typical (50%) Frequent (79-30%) HP:0002120
26 clinodactyly of the 5th finger64 54 typical (50%) Frequent (79-30%) HP:0004209
27 aplasia/hypoplasia of the corpus callosum64 typical (50%) HP:0007370
28 opacification of the corneal stroma64 typical (50%) HP:0007759
29 short distal phalanx of finger64 54 typical (50%) Frequent (79-30%) HP:0009882
30 non-midline cleft lip64 54 typical (50%) Frequent (79-30%) HP:0100335
31 abnormality of female internal genitalia64 occasional (7.5%) HP:0000008
32 vesicoureteral reflux64 54 occasional (7.5%) Occasional (29-5%) HP:0000076
33 narrow chest64 54 occasional (7.5%) Occasional (29-5%) HP:0000774
34 dandy-walker malformation64 54 occasional (7.5%) Occasional (29-5%) HP:0001305
35 omphalocele64 54 occasional (7.5%) Occasional (29-5%) HP:0001539
36 abnormality of the aorta64 54 occasional (7.5%) Occasional (29-5%) HP:0001679
37 aganglionic megacolon64 54 occasional (7.5%) Occasional (29-5%) HP:0002251
38 intestinal malrotation64 54 occasional (7.5%) Occasional (29-5%) HP:0002566
39 ectopic anus64 54 occasional (7.5%) Occasional (29-5%) HP:0004397
40 aplasia/hypoplasia affecting the eye64 occasional (7.5%) HP:0008056
41 urogenital fistula64 occasional (7.5%) HP:0100589
42 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
43 duodenal stenosis64 occasional (7.5%) HP:0100867
44 hypospadias64 54 Occasional (29-5%) HP:0000047
45 bifid scrotum64 HP:0000048
46 shawl scrotum64 HP:0000049
47 ureteral duplication64 HP:0000073
48 renal agenesis64 HP:0000104
49 renal cyst64 HP:0000107
50 hydronephrosis64 54 Occasional (29-5%) HP:0000126
51 cleft upper lip64 HP:0000204
52 microretrognathia64 HP:0000308
53 wide nasal bridge64 54 Very frequent (99-80%) HP:0000431
54 broad neck64 HP:0000475
55 microphthalmia64 54 Occasional (29-5%) HP:0000568
56 blepharophimosis64 HP:0000581
57 bicornuate uterus64 54 Occasional (29-5%) HP:0000813
58 thin ribs64 HP:0000883
59 broad ribs64 HP:0000885
60 single transverse palmar crease64 HP:0000954
61 prominent fingertip pads64 HP:0001212
62 intellectual disability64 54 Very frequent (99-80%) HP:0001249
63 agenesis of corpus callosum64 54 Frequent (79-30%) HP:0001274
64 large for gestational age64 HP:0001520
65 ventricular septal defect64 HP:0001629
66 atria septal defect64 HP:0001631
67 polysplenia64 HP:0001748
68 small nail64 HP:0001792
69 rocker bottom foot64 HP:0001838
70 anal atresia64 54 Occasional (29-5%) HP:0002023
71 esophageal atresia64 HP:0002032
72 pulmonary hypoplasia64 54 Very frequent (99-80%) HP:0002089
73 arrhinencephaly64 HP:0002139
74 meckel diverticulum64 HP:0002245
75 duodenal atresia64 54 Occasional (29-5%) HP:0002247
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 absent left hemidiaphragm64 HP:0009112
81 joint contracture of the hand64 HP:0009473
82 proximal placement of thumb64 HP:0009623
83 short thumb64 HP:0009778
84 facial hirsutism64 HP:0009937
85 chylothorax64 HP:0010310
86 abnormality of the helix64 HP:0011039
87 camptodactyly64 HP:0012385
88 high palate54 Very frequent (99-80%)
89 hypoplastic fingernail54 Very frequent (99-80%)
90 gastroesophageal reflux54 Occasional (29-5%)
91 ventriculomegaly54 Frequent (79-30%)
92 wide intermamillary distance54 Frequent (79-30%)
93 corneal opacity54 Frequent (79-30%)
94 severe global developmental delay54 Very frequent (99-80%)
95 abnormality of the aortic arch54 Occasional (29-5%)

UMLS symptoms related to Fryns Syndrome:


seizures, observation of narrowing of palpebral fissure

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
Lung, Kidney, Brain, Eye, Uterus, Skin

Publications for Fryns Syndrome

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Articles related to Fryns Syndrome:

(show top 50)    (show all 90)
idTitleAuthorsYear
1
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. (27038415)
2016
2
Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. (27980443)
2016
3
Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity. (27300081)
2016
4
Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome. (27064748)
2016
5
Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? (26358559)
2015
6
Prenatal and postnatal findings in five cases of Fryns syndrome. (24996149)
2014
7
Fryns syndrome with vertebral defects: a novel association in a Mexican infant. (24783652)
2014
8
Atypical Fryns syndrome: clinical, radiological and pathological findings. (24827959)
2014
9
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands. (24357154)
2013
10
Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings. (23604607)
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
Fryns syndrome with atypical findings--with large midline cleft on forehead but normal cranial MRI findings. (21290970)
2010
14
Unusual facial cleft in Fryns syndrome: defect of stomodeum? (20681225)
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
Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1. (17602449)
2007
20
Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins. (17384863)
2007
21
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). (16831221)
2006
22
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. (16760741)
2006
23
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. (17103446)
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
Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. (16440878)
2005
27
Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. (15580636)
2005
28
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. (16094260)
2005
29
Fryns syndrome: report of eight new cases. (15654233)
2005
30
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. (16141010)
2005
31
Fryns syndrome with osteochondrodysplasia. (15793837)
2005
32
Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? (16283673)
2005
33
A case of Fryns syndrome without diaphragmatic hernia and review of the literature. (15194956)
2004
34
Eye abnormalities in Fryns syndrome. (14994236)
2004
35
A Fryns syndrome-like phenotype with mosaic t(1;22)(q12;p12) chromosomal translocation. (15057129)
2004
36
Fryns syndrome: a case associated with karyotype XO. (15323276)
2004
37
Fryns syndrome: a review of the phenotype and diagnostic guidelines. (14735597)
2004
38
Documentation of anomalies not previously described in Fryns syndrome. (12494439)
2003
39
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. (12784307)
2003
40
Expanding the limits of the Fryns syndrome. (12949980)
2003
41
Pathologic quiz case: hypoplastic digit, diaphragmatic hernia, and agenesis of the corpus callosum in a 21(5/7)-week fetus. Fryns syndrome. (14567736)
2003
42
Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome? (12962292)
2003
43
Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemidiaphragmatic agenesis. (12047706)
2002
44
Fryns syndrome. (12215698)
2002
45
Fryns syndrome in children with congenital diaphragmatic hernia. (12483630)
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
Variability in the phenotypic expression of fryns syndrome: A report of two sibships. (11146459)
2000
49
Ocular findings in Fryns syndrome. (11167240)
2000
50
Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22. (10893671)
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