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, 26GTR, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Fryns Syndrome:

Name: Fryns Syndrome 51 23 47 24 25 53 26 67
Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies 47 25
Diaphragmatic Hernia-Abnormal Face-Distal Limb Anomalies Syndrome 53
 
Nephrotic Syndrome - Frequently Relapsing 67
Moerman Van Den Berghe Fryns Syndrome 47
Frns 47

Characteristics:

Orphanet epidemiological data:

53
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:

63
fryns syndrome:
Inheritance: autosomal recessive inheritance
Mortality/Aging: stillbirth

Classifications:



External Ids:

OMIM51 229850
Orphanet53 ORPHA2059
MESH via Orphanet39 C538070
UMLS via Orphanet68 C0220730
ICD10 via Orphanet30 Q87.8

Summaries for Fryns Syndrome

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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

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 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:

 63 53 (show all 95)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia63 53 hallmark (90%) Very frequent (99-80%) HP:0000003
2 broad forehead63 53 hallmark (90%) Very frequent (99-80%) HP:0000337
3 long philtrum63 53 hallmark (90%) Very frequent (99-80%) HP:0000343
4 micrognathia63 53 hallmark (90%) Very frequent (99-80%) HP:0000347
5 low-set, posteriorly rotated ears63 53 hallmark (90%) Very frequent (99-80%) HP:0000368
6 short neck63 53 hallmark (90%) Very frequent (99-80%) HP:0000470
7 congenital diaphragmatic hernia63 53 hallmark (90%) Very frequent (99-80%) HP:0000776
8 anonychia63 hallmark (90%) HP:0001798
9 aplasia/hypoplasia of the lungs63 hallmark (90%) HP:0006703
10 aplasia/hypoplasia of the nipples63 53 hallmark (90%) Very frequent (99-80%) HP:0006709
11 tented upper lip vermilion63 53 hallmark (90%) Very frequent (99-80%) HP:0010804
12 cognitive impairment63 hallmark (90%) HP:0100543
13 cryptorchidism63 53 typical (50%) Frequent (79-30%) HP:0000028
14 wide mouth63 53 typical (50%) Frequent (79-30%) HP:0000154
15 median cleft lip63 53 typical (50%) Frequent (79-30%) HP:0000161
16 cleft palate63 53 typical (50%) Frequent (79-30%) HP:0000175
17 coarse facial features63 53 typical (50%) Frequent (79-30%) HP:0000280
18 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
19 anteverted nares63 53 typical (50%) Frequent (79-30%) HP:0000463
20 thickened nuchal skin fold63 53 typical (50%) Frequent (79-30%) HP:0000474
21 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
22 polyhydramnios63 53 typical (50%) Frequent (79-30%) HP:0001561
23 tetralogy of fallot63 53 typical (50%) Frequent (79-30%) HP:0001636
24 abnormality of the cardiac septa63 53 typical (50%) Frequent (79-30%) HP:0001671
25 cerebral cortical atrophy63 53 typical (50%) Frequent (79-30%) HP:0002120
26 clinodactyly of the 5th finger63 53 typical (50%) Frequent (79-30%) HP:0004209
27 aplasia/hypoplasia of the corpus callosum63 typical (50%) HP:0007370
28 opacification of the corneal stroma63 typical (50%) HP:0007759
29 short distal phalanx of finger63 53 typical (50%) Frequent (79-30%) HP:0009882
30 non-midline cleft lip63 53 typical (50%) Frequent (79-30%) HP:0100335
31 abnormality of female internal genitalia63 occasional (7.5%) HP:0000008
32 vesicoureteral reflux63 53 occasional (7.5%) Occasional (29-5%) HP:0000076
33 narrow chest63 53 occasional (7.5%) Occasional (29-5%) HP:0000774
34 dandy-walker malformation63 53 occasional (7.5%) Occasional (29-5%) HP:0001305
35 omphalocele63 53 occasional (7.5%) Occasional (29-5%) HP:0001539
36 abnormality of the aorta63 53 occasional (7.5%) Occasional (29-5%) HP:0001679
37 aganglionic megacolon63 53 occasional (7.5%) Occasional (29-5%) HP:0002251
38 intestinal malrotation63 53 occasional (7.5%) Occasional (29-5%) HP:0002566
39 ectopic anus63 53 occasional (7.5%) Occasional (29-5%) HP:0004397
40 aplasia/hypoplasia affecting the eye63 occasional (7.5%) HP:0008056
41 urogenital fistula63 occasional (7.5%) HP:0100589
42 displacement of the external urethral meatus63 occasional (7.5%) HP:0100627
43 duodenal stenosis63 occasional (7.5%) HP:0100867
44 hypospadias63 53 Occasional (29-5%) HP:0000047
45 bifid scrotum63 HP:0000048
46 shawl scrotum63 HP:0000049
47 ureteral duplication63 HP:0000073
48 renal agenesis63 HP:0000104
49 renal cyst63 HP:0000107
50 hydronephrosis63 53 Occasional (29-5%) HP:0000126
51 cleft upper lip63 HP:0000204
52 microretrognathia63 HP:0000308
53 wide nasal bridge63 53 Very frequent (99-80%) HP:0000431
54 broad neck63 HP:0000475
55 microphthalmia63 53 Occasional (29-5%) HP:0000568
56 blepharophimosis63 HP:0000581
57 bicornuate uterus63 53 Occasional (29-5%) HP:0000813
58 thin ribs63 HP:0000883
59 broad ribs63 HP:0000885
60 single transverse palmar crease63 HP:0000954
61 prominent fingertip pads63 HP:0001212
62 intellectual disability63 53 Very frequent (99-80%) HP:0001249
63 agenesis of corpus callosum63 53 Frequent (79-30%) HP:0001274
64 large for gestational age63 HP:0001520
65 ventricular septal defect63 HP:0001629
66 atria septal defect63 HP:0001631
67 polysplenia63 HP:0001748
68 small nail63 HP:0001792
69 rocker bottom foot63 HP:0001838
70 anal atresia63 53 Occasional (29-5%) HP:0002023
71 esophageal atresia63 HP:0002032
72 pulmonary hypoplasia63 53 Very frequent (99-80%) HP:0002089
73 arrhinencephaly63 HP:0002139
74 meckel diverticulum63 HP:0002245
75 duodenal atresia63 53 Occasional (29-5%) HP:0002247
76 thoracic hypoplasia63 HP:0005257
77 ectopic pancreatic tissue63 HP:0006278
78 hypoplasia of olfactory tract63 HP:0007036
79 hypoplasia of the optic tract63 HP:0007096
80 absent left hemidiaphragm63 HP:0009112
81 joint contracture of the hand63 HP:0009473
82 proximal placement of thumb63 HP:0009623
83 short thumb63 HP:0009778
84 facial hirsutism63 HP:0009937
85 chylothorax63 HP:0010310
86 abnormality of the helix63 HP:0011039
87 camptodactyly63 HP:0012385
88 high palate53 Very frequent (99-80%)
89 hypoplastic fingernail53 Very frequent (99-80%)
90 gastroesophageal reflux53 Occasional (29-5%)
91 ventriculomegaly53 Frequent (79-30%)
92 wide intermamillary distance53 Frequent (79-30%)
93 corneal opacity53 Frequent (79-30%)
94 severe global developmental delay53 Very frequent (99-80%)
95 abnormality of the aortic arch53 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

Search NIH Clinical Center for Fryns Syndrome

Genetic Tests for Fryns Syndrome

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Genetic tests related to Fryns Syndrome:

id Genetic test Affiliating Genes
1 Fryns Syndrome26 24

Anatomical Context for Fryns Syndrome

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MalaCards organs/tissues related to Fryns Syndrome:

35
Lung, Kidney, Brain, Eye, Uterus, Skin

Animal Models for Fryns Syndrome or affiliated genes

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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
Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? (26358559)
2015
3
Prenatal and postnatal findings in five cases of Fryns syndrome. (24996149)
2014
4
Fryns syndrome with vertebral defects: a novel association in a Mexican infant. (24783652)
2014
5
Atypical Fryns syndrome: clinical, radiological and pathological findings. (24827959)
2014
6
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands. (24357154)
2013
7
Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings. (23604607)
2013
8
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. (23338167)
2013
9
Fryns syndrome with atypical findings--with large midline cleft on forehead but normal cranial MRI findings. (21290970)
2010
10
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. (19800039)
2009
11
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
12
Prenatal diagnosis of partial anomalous pulmonary venous connection in a patient with Fryns syndrome. (17324994)
2007
13
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). (16831221)
2006
14
Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. (16440878)
2005
15
Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. (15580636)
2005
16
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. (16094260)
2005
17
Fryns syndrome: report of eight new cases. (15654233)
2005
18
A case of Fryns syndrome without diaphragmatic hernia and review of the literature. (15194956)
2004
19
Eye abnormalities in Fryns syndrome. (14994236)
2004
20
Documentation of anomalies not previously described in Fryns syndrome. (12494439)
2003
21
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. (12784307)
2003
22
Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemidiaphragmatic agenesis. (12047706)
2002
23
Variability in the phenotypic expression of fryns syndrome: A report of two sibships. (11146459)
2000
24
Ocular findings in Fryns syndrome. (11167240)
2000
25
Aortic root dilation in apparent Lujan-Fryns syndrome. (10508979)
1999
26
Hematometra and sudden death after status epilepticus in the adolescent female with Fryns syndrome. (10546108)
1999
27
Scalp defects in Fryns syndrome. (9664213)
1998
28
Fryns syndrome: prenatal diagnosis and pathologic correlation. (9733178)
1998
29
Use of three-dimensional ultrasound to establish the prenatal diagnosis of Fryns syndrome. (8894628)
1996
30
Fryns syndrome and erupted teeth in a 24-weeks-old fetus. (8831132)
1996
31
Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. (8723050)
1996
32
Fryns syndrome: two further cases without lateral diaphragmatic defects. (8574427)
1995
33
Skeletal manifestations in Fryns syndrome. (7717421)
1995
34
Fryns syndrome survivors and neurologic outcome. (8599357)
1995
35
Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome. (7856644)
1994
36
Two fetuses with Fryns syndrome without diaphragmatic defects. (7891381)
1994
37
Fryns syndrome: a new definition. (8066003)
1994
38
Fryns Syndrome (20301632)
1993
39
Fryns syndrome. (8456824)
1993
40
Fryns syndrome without diaphragmatic hernia? (1785645)
1991
41
Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. (2314962)
1990
42
Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair? (2363440)
1990
43
Ring chromosome 15 in a patient with features of Fryns' syndrome. (2746621)
1989
44
Fryns syndrome: report on 8 new cases. (2650934)
1989
45
Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2. (2596530)
1989
46
The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. (3239572)
1988
47
Fryns syndrome in a girl born to consanguineous parents. (3564997)
1987
48
Fryns syndrome: a predictable, lethal pattern of multiple congenital anomalies. (3799773)
1987
49
The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. (4075561)
1985
50
Fryns syndrome without deletion 16q. (6968534)
1980

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet