MCID: FRY002
MIFTS: 37

Fryns Syndrome malady

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

Aliases & Classifications for Fryns Syndrome

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Sources:
50OMIM, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 25GTR, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Fryns Syndrome:

Name: Fryns Syndrome 50 22 46 23 24 52 25 66
Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies 46 24
Diaphragmatic Hernia-Abnormal Face-Distal Limb Anomalies Syndrome 52
 
Moerman Van Den Berghe Fryns Syndrome 46
Frns 46

Characteristics:

Orphanet epidemiological data:

52
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:

62
fryns syndrome:
Inheritance: autosomal recessive inheritance
Mortality/Aging: stillbirth


Classifications:



External Ids:

OMIM50 229850
Orphanet52 ORPHA2059
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C538070
UMLS via Orphanet67 C0220730

Summaries for Fryns Syndrome

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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

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

Symptoms:

 52 (show all 51)
  • multicystic kidney dysplasia
  • cryptorchidism
  • hypospadias
  • vesicoureteral reflux
  • hydronephrosis
  • wide mouth
  • median cleft lip
  • cleft palate
  • high palate
  • coarse facial features
  • hypertelorism
  • broad forehead
  • long philtrum
  • micrognathia
  • low-set, posteriorly rotated ears
  • wide nasal bridge
  • anteverted nares
  • short neck
  • thickened nuchal skin fold
  • microphthalmos
  • narrow chest
  • congenital diaphragmatic hernia
  • bicornuate uterus
  • intellectual disability
  • seizures
  • agenesis of corpus callosum
  • dandy-walker malformation
  • omphalocele
  • polyhydramnios
  • tetralogy of fallot
  • abnormality of the cardiac septa
  • abnormality of the aorta
  • hypoplastic fingernail
  • gastroesophageal reflux
  • anal atresia
  • pulmonary hypoplasia
  • ventriculomegaly
  • cerebral cortical atrophy
  • duodenal atresia
  • aganglionic megacolon
  • intestinal malrotation
  • clinodactyly of the 5th finger
  • ectopic anus
  • wide intermamillary distance
  • aplasia/hypoplasia of the nipples
  • corneal opacity
  • short distal phalanx of finger
  • tented upper lip vermilion
  • severe global developmental delay
  • abnormality of the aortic arch
  • non-midline cleft lip

HPO human phenotypes related to Fryns Syndrome:

(show all 105)
id Description Frequency HPO Source Accession
1 multicystic kidney dysplasia hallmark (90%) HP:0000003
2 broad forehead hallmark (90%) HP:0000337
3 long philtrum hallmark (90%) HP:0000343
4 micrognathia hallmark (90%) HP:0000347
5 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
6 short neck hallmark (90%) HP:0000470
7 congenital diaphragmatic hernia hallmark (90%) HP:0000776
8 anonychia hallmark (90%) HP:0001798
9 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
10 aplasia/hypoplasia of the nipples hallmark (90%) HP:0006709
11 tented upper lip vermilion hallmark (90%) HP:0010804
12 cognitive impairment hallmark (90%) HP:0100543
13 cryptorchidism typical (50%) HP:0000028
14 wide mouth typical (50%) HP:0000154
15 median cleft lip typical (50%) HP:0000161
16 cleft palate typical (50%) HP:0000175
17 coarse facial features typical (50%) HP:0000280
18 hypertelorism typical (50%) HP:0000316
19 anteverted nares typical (50%) HP:0000463
20 thickened nuchal skin fold typical (50%) HP:0000474
21 seizures typical (50%) HP:0001250
22 polyhydramnios typical (50%) HP:0001561
23 tetralogy of fallot typical (50%) HP:0001636
24 abnormality of the cardiac septa typical (50%) HP:0001671
25 cerebral cortical atrophy typical (50%) HP:0002120
26 clinodactyly of the 5th finger typical (50%) HP:0004209
27 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
28 opacification of the corneal stroma typical (50%) HP:0007759
29 short distal phalanx of finger typical (50%) HP:0009882
30 non-midline cleft lip typical (50%) HP:0100335
31 polyhydramnios 14% HP:0001561
32 abnormality of female internal genitalia occasional (7.5%) HP:0000008
33 vesicoureteral reflux occasional (7.5%) HP:0000076
34 narrow chest occasional (7.5%) HP:0000774
35 dandy-walker malformation occasional (7.5%) HP:0001305
36 omphalocele occasional (7.5%) HP:0001539
37 abnormality of the aorta occasional (7.5%) HP:0001679
38 aganglionic megacolon occasional (7.5%) HP:0002251
39 intestinal malrotation occasional (7.5%) HP:0002566
40 ectopic anus occasional (7.5%) HP:0004397
41 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
42 urogenital fistula occasional (7.5%) HP:0100589
43 displacement of the external urethral meatus occasional (7.5%) HP:0100627
44 duodenal stenosis occasional (7.5%) HP:0100867
45 cryptorchidism HP:0000028
46 hypospadias HP:0000047
47 bifid scrotum HP:0000048
48 shawl scrotum HP:0000049
49 ureteral duplication HP:0000073
50 renal agenesis HP:0000104
51 renal cyst HP:0000107
52 hydronephrosis HP:0000126
53 wide mouth HP:0000154
54 cleft palate HP:0000175
55 cleft upper lip HP:0000204
56 coarse facial features HP:0000280
57 microretrognathia HP:0000308
58 hypertelorism HP:0000316
59 long philtrum HP:0000343
60 wide nasal bridge HP:0000431
61 anteverted nares HP:0000463
62 short neck HP:0000470
63 broad neck HP:0000475
64 microphthalmia HP:0000568
65 blepharophimosis HP:0000581
66 bicornuate uterus HP:0000813
67 thin ribs HP:0000883
68 broad ribs HP:0000885
69 single transverse palmar crease HP:0000954
70 prominent fingertip pads HP:0001212
71 intellectual disability HP:0001249
72 seizures HP:0001250
73 agenesis of corpus callosum HP:0001274
74 dandy-walker malformation HP:0001305
75 large for gestational age HP:0001520
76 omphalocele HP:0001539
77 ventricular septal defect HP:0001629
78 atria septal defect HP:0001631
79 polysplenia HP:0001748
80 small nail HP:0001792
81 anonychia HP:0001798
82 rocker bottom foot HP:0001838
83 anal atresia HP:0002023
84 esophageal atresia HP:0002032
85 pulmonary hypoplasia HP:0002089
86 arrhinencephaly HP:0002139
87 meckel diverticulum HP:0002245
88 duodenal atresia HP:0002247
89 aganglionic megacolon HP:0002251
90 intestinal malrotation HP:0002566
91 thoracic hypoplasia HP:0005257
92 ectopic pancreatic tissue HP:0006278
93 hypoplasia of olfactory tract HP:0007036
94 hypoplasia of the optic tract HP:0007096
95 opacification of the corneal stroma HP:0007759
96 absent left hemidiaphragm HP:0009112
97 joint contracture of the hand HP:0009473
98 proximal placement of thumb HP:0009623
99 short thumb HP:0009778
100 short distal phalanx of finger HP:0009882
101 facial hirsutism HP:0009937
102 chylothorax HP:0010310
103 tented upper lip vermilion HP:0010804
104 abnormality of the helix HP:0011039
105 camptodactyly HP:0012385

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 Syndrome25 23

Anatomical Context for Fryns Syndrome

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MalaCards organs/tissues related to Fryns Syndrome:

34
Lung, Kidney, Brain, Eye, Uterus, Skin

Animal Models for Fryns Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Fryns Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.1MED12, PIGN

Publications for Fryns Syndrome

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Articles related to Fryns Syndrome:

(show top 50)    (show all 89)
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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Cellular components related to Fryns Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1membraneGO:00160209.1MED12, PIGN

Sources for Fryns Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet