MCID: FRY002
MIFTS: 43

Fryns Syndrome

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

Aliases & Classifications for Fryns Syndrome

MalaCards integrated aliases for Fryns Syndrome:

Name: Fryns Syndrome 53 23 49 24 55 28 69
Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies 53 49 24
Frns 53 49
Diaphragmatic Hernia-Abnormal Face-Distal Limb Anomalies Syndrome 55
Nephrotic Syndrome - Frequently Relapsing 69
Moerman Van Den Berghe Fryns Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
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;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
majority are stillborn or die in early neonatal period
14% of patients survive with polyhydramnios
prevalence of 7 in 100,000 live births


HPO:

31
fryns syndrome:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fryns Syndrome

NIH Rare Diseases : 49 Fryns syndromeis 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 congenitaldiaphragmatic 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 : 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 : 53 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period (Alessandri et al., 2005). Fryns (1987) reviewed the syndrome. (229850)

Wikipedia : 72 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 via clinical synopsis from OMIM:

53
NeurologicCentralNervousSystem:
seizures
arrhinencephaly
dandy-walker malformation
hypoplasia of olfactory tract
agenesis of the corpus callosum
more
HeadAndNeckEars:
low-set ears
abnormal helices
poorly formed ears

HeadAndNeckMouth:
cleft palate
cleft lip
macrostomia (large mouth)
tented upper lip

GenitourinaryInternalGenitaliaMale:
cryptorchidism

GenitourinaryExternalGenitaliaMale:
hypospadias
bifid scrotum
shawl scrotum

GenitourinaryKidneys:
hydronephrosis
renal agenesis
renal cysts

AbdomenExternalFeatures:
omphalocele

SkinNailsHairSkin:
single transverse palmar crease
prominent fingertip pads

GenitourinaryInternalGenitaliaFemale:
bicornuate uterus
uterine atresia
cervical atresia
uterus and vagina duplex

SkinNailsHairNails:
hypoplastic nails
absent nails

HeadAndNeckNeck:
short broad neck

ChestDiaphragm:
diaphragmatic defect, often unilateral and left-sided

AbdomenSpleen:
multiple accessory spleens

SkeletalFeet:
hypoplasia of the distal phalanges
'rocker-bottom' feet

HeadAndNeckEyes:
hypertelorism
microphthalmia
narrow palpebral fissures
cloudy cornea

HeadAndNeckNose:
anteverted nares
broad nasal bridge

HeadAndNeckFace:
long philtrum
microretrognathia
coarse face
hirsute face

CardiovascularHeart:
atrial septal defect
ventricular septal defect

AbdomenGastrointestinal:
intestinal malrotation
esophageal atresia
duodenal atresia
meckel diverticulum
imperforate anus
more
GrowthOther:
large for gestational age

SkeletalHands:
single transverse palmar crease
camptodactyly
prominent fingertip pads
short terminal phalanges
hypoplasia of the distal phalanges
more
RespiratoryLung:
pulmonary hypoplasia
pulmonary lobation defect

ChestExternalFeatures:
chylothorax
small thorax

SkinNailsHairHair:
hirsute face

CardiovascularVascular:
aortic arch anomalies

AbdomenPancreas:
ectopic pancreatic tissue

GenitourinaryUreters:
ureteral cysts
duplicate ureter
atretic ureter


Clinical features from OMIM:

229850

Human phenotypes related to Fryns Syndrome:

55 31 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
2 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
3 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 agenesis of corpus callosum 55 31 frequent (33%) Frequent (79-30%) HP:0001274
5 high palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000218
6 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
7 coarse facial features 55 31 frequent (33%) Frequent (79-30%) HP:0000280
8 corneal opacity 55 31 frequent (33%) Frequent (79-30%) HP:0007957
9 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
10 anteverted nares 55 31 frequent (33%) Frequent (79-30%) HP:0000463
11 gastroesophageal reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0002020
12 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
13 long philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000343
14 micrognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000347
15 narrow chest 55 31 occasional (7.5%) Occasional (29-5%) HP:0000774
16 severe global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0011344
17 cryptorchidism 55 31 frequent (33%) Frequent (79-30%) HP:0000028
18 wide intermamillary distance 55 31 frequent (33%) Frequent (79-30%) HP:0006610
19 aplasia/hypoplasia of the nipples 55 31 hallmark (90%) Very frequent (99-80%) HP:0006709
20 thickened nuchal skin fold 55 31 frequent (33%) Frequent (79-30%) HP:0000474
21 cerebral cortical atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0002120
22 aganglionic megacolon 55 31 occasional (7.5%) Occasional (29-5%) HP:0002251
23 non-midline cleft lip 55 31 frequent (33%) Frequent (79-30%) HP:0100335
24 broad forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000337
25 wide mouth 55 31 frequent (33%) Frequent (79-30%) HP:0000154
26 microphthalmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000568
27 hypospadias 55 31 occasional (7.5%) Occasional (29-5%) HP:0000047
28 clinodactyly of the 5th finger 55 31 frequent (33%) Frequent (79-30%) HP:0004209
29 multicystic kidney dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000003
30 low-set, posteriorly rotated ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000368
31 anal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002023
32 vesicoureteral reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0000076
33 polyhydramnios 55 31 very rare (1%) Frequent (79-30%) HP:0001561
34 tetralogy of fallot 55 31 frequent (33%) Frequent (79-30%) HP:0001636
35 intestinal malrotation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002566
36 short distal phalanx of finger 55 31 frequent (33%) Frequent (79-30%) HP:0009882
37 tented upper lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0010804
38 hydronephrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000126
39 hypoplastic fingernail 55 31 hallmark (90%) Very frequent (99-80%) HP:0001804
40 dandy-walker malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001305
41 congenital diaphragmatic hernia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000776
42 omphalocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0001539
43 ectopic anus 55 31 occasional (7.5%) Occasional (29-5%) HP:0004397
44 median cleft lip 55 31 frequent (33%) Frequent (79-30%) HP:0000161
45 pulmonary hypoplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002089
46 duodenal atresia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002247
47 bicornuate uterus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000813
48 low-set ears 31 HP:0000369
49 abnormality of the helix 31 HP:0011039
50 broad ribs 31 HP:0000885

UMLS symptoms related to Fryns Syndrome:


seizures

Drugs & Therapeutics for Fryns Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 Fryns Syndrome 28

Anatomical Context for Fryns Syndrome

MalaCards organs/tissues related to Fryns Syndrome:

38
Kidney, Lung, Brain, Uterus, Skin, Colon, Spleen

Publications for Fryns Syndrome

Articles related to Fryns Syndrome:

(show top 50) (show all 92)
# Title Authors Year
1
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La RAcunion Island, in patients with Fryns syndrome. ( 29330547 )
2018
2
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome. ( 28817240 )
2017
3
Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity. ( 27300081 )
2016
4
Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia. ( 27980443 )
2016
5
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. ( 27038415 )
2016
6
Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome. ( 27064748 )
2016
7
Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? ( 26358559 )
2015
8
Atypical Fryns syndrome: clinical, radiological and pathological findings. ( 24827959 )
2014
9
Fryns syndrome with vertebral defects: a novel association in a Mexican infant. ( 24783652 )
2014
10
Prenatal and postnatal findings in five cases of Fryns syndrome. ( 24996149 )
2014
11
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. ( 23338167 )
2013
12
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands. ( 24357154 )
2013
13
Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings. ( 23604607 )
2013
14
Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia. ( 21259013 )
2011
15
Unusual facial cleft in Fryns syndrome: defect of stomodeum? ( 20681225 )
2010
16
Fryns syndrome with atypical findings--with large midline cleft on forehead but normal cranial MRI findings. ( 21290970 )
2010
17
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. ( 19800039 )
2009
18
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
19
Fryns syndrome: case report and review of the literature. ( 17960800 )
2008
20
Prenatal diagnosis of partial anomalous pulmonary venous connection in a patient with Fryns syndrome. ( 17324994 )
2007
21
Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1. ( 17602449 )
2007
22
Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins. ( 17384863 )
2007
23
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. ( 16760741 )
2006
24
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review. ( 17036352 )
2006
25
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). ( 16831221 )
2006
26
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. ( 16333846 )
2006
27
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report. ( 17103446 )
2006
28
Fryns syndrome with osteochondrodysplasia. ( 15793837 )
2005
29
Fryns syndrome: report of eight new cases. ( 15654233 )
2005
30
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. ( 16094260 )
2005
31
Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. ( 16440878 )
2005
32
Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. ( 15580636 )
2005
33
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. ( 16141010 )
2005
34
Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? ( 16283673 )
2005
35
A case of Fryns syndrome without diaphragmatic hernia and review of the literature. ( 15194956 )
2004
36
A Fryns syndrome-like phenotype with mosaic t(1;22)(q12;p12) chromosomal translocation. ( 15057129 )
2004
37
Fryns syndrome: a review of the phenotype and diagnostic guidelines. ( 14735597 )
2004
38
Fryns syndrome: a case associated with karyotype XO. ( 15323276 )
2004
39
Eye abnormalities in Fryns syndrome. ( 14994236 )
2004
40
Expanding the limits of the Fryns syndrome. ( 12949980 )
2003
41
Documentation of anomalies not previously described in Fryns syndrome. ( 12494439 )
2003
42
Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome? ( 12962292 )
2003
43
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. ( 12784307 )
2003
44
Pathologic quiz case: hypoplastic digit, diaphragmatic hernia, and agenesis of the corpus callosum in a 21(5/7)-week fetus. Fryns syndrome. ( 14567736 )
2003
45
Preserved neurobehavioral abilities in Lujan-Fryns syndrome. ( 11807907 )
2002
46
Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemidiaphragmatic agenesis. ( 12047706 )
2002
47
Fryns syndrome. ( 12215698 )
2002
48
Fryns syndrome in children with congenital diaphragmatic hernia. ( 12483630 )
2002
49
A fetus with pseudo Fryns syndrome and t(18;22) translocation. ( 11491314 )
2001
50
Discordant phenotype in monozygotic twins with Fryns syndrome. ( 10982481 )
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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70 UMLS via Orphanet
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