FRNS
MCID: FRY002
MIFTS: 39

Fryns Syndrome (FRNS)

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Fryns Syndrome

MalaCards integrated aliases for Fryns Syndrome:

Name: Fryns Syndrome 57 25 20 43 58 29 39 70
Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies 57 20 43
Frns 57 20
Diaphragmatic Hernia-Abnormal Face-Distal Limb Anomalies Syndrome 58
Nephrotic Syndrome - Frequently Relapsing 70
Moerman Van Den Berghe Fryns Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
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®:

57 (Updated 20-May-2021)
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:
Onset and clinical course stillbirth
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Fryns Syndrome

MedlinePlus Genetics : 43 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.Most people with Fryns syndrome have a defect in the muscle that separates the abdomen from the chest cavity (the diaphragm). The most common defect is a congenital diaphragmatic hernia, which is a hole in the diaphragm that develops before birth. This hole allows the stomach and intestines to move into the chest and crowd the heart and lungs. As a result, the lungs often do not develop properly (pulmonary hypoplasia), which can cause life-threatening breathing difficulties in affected infants.Other major signs of Fryns syndrome include abnormalities of the fingers and toes and distinctive facial features. The tips of the fingers and toes tend to be underdeveloped, resulting in a short and stubby appearance with small or absent nails. Most affected individuals have several unusual facial features, including widely spaced eyes (hypertelorism), a broad and flat nasal bridge, a thick nasal tip, a wide space between the nose and upper lip (a long philtrum), a large mouth (macrostomia), and a small chin (micrognathia). Many also have low-set and abnormally shaped ears.Several additional features have been reported in people with Fryns syndrome. These include small eyes (microphthalmia), clouding of the clear outer covering of the eye (the cornea), and an opening in the roof of the mouth (cleft palate) with or without a split in the lip (cleft lip). Fryns syndrome can also affect the development of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia.Most people with Fryns syndrome die before birth or in early infancy from pulmonary hypoplasia caused by a congenital diaphragmatic hernia. However, a few affected individuals have lived into childhood. Many of these children have had severe developmental delay and intellectual disability.

MalaCards based summary : Fryns Syndrome, also known as diaphragmatic hernia, abnormal face, and distal limb anomalies, is related to x-linked intellectual disability with marfanoid habitus and intellectual developmental disorder, x-linked, syndromic, lujan-fryns type, and has symptoms including seizures An important gene associated with Fryns Syndrome is PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N). Affiliated tissues include uterus, eye and heart, and related phenotypes are intellectual disability and high palate

GARD : 20 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.

OMIM® : 57 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. Also see Tonne-Kalscheuer syndrome (300978), an X-linked disorder with overlapping features. (229850) (Updated 20-May-2021)

Wikipedia : 73 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in... more...

GeneReviews: NBK1459

Related Diseases for Fryns Syndrome

Diseases related to Fryns Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 x-linked intellectual disability with marfanoid habitus 30.7 ZDHHC9 UPF3B MED12
2 intellectual developmental disorder, x-linked, syndromic, lujan-fryns type 11.6
3 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.4
4 frints de smet fabry fryns syndrome 11.2
5 cartwright nelson fryns syndrome 11.2
6 split-hand/foot malformation 3 11.1
7 osteolysis syndrome, recessive 11.1
8 male pseudohermaphroditism/mental retardation syndrome, verloes type 11.1
9 arachnodactyly - intellectual disability - dysmorphism 11.1
10 syndromic x-linked intellectual disability 14 11.1
11 die smulders vles fryns syndrome 11.0
12 lujan syndrome 11.0
13 tonne-kalscheuer syndrome 11.0
14 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism 11.0
15 symbrachydactyly of hands and feet 11.0
16 diaphragmatic hernia, congenital 10.5
17 cleft palate, isolated 10.4
18 cleft lip 10.4
19 polyhydramnios 10.4
20 cleft lip/palate 10.3
21 autosomal recessive disease 10.2
22 hypotonia 10.2
23 heart septal defect 10.2
24 cystic lymphangioma 10.2
25 hirschsprung disease 1 10.2
26 microphthalmia 10.2
27 hydronephrosis 10.2
28 ventricular septal defect 10.2
29 chromosomal triplication 10.1
30 trisomy 22 10.1
31 renal dysplasia 10.1
32 gastroesophageal reflux 10.0
33 hypertelorism 10.0
34 anus, imperforate 10.0
35 duodenal atresia 10.0
36 fryns microphthalmia syndrome 10.0
37 macrostomia, isolated 10.0
38 multiple congenital anomalies-hypotonia-seizures syndrome 1 10.0
39 alacrima, achalasia, and mental retardation syndrome 10.0
40 omphalocele 10.0
41 cerebellar hypoplasia 10.0
42 multiple congenital anomalies-hypotonia-seizures syndrome 10.0
43 osteochondrodysplasia 10.0
44 aortic arch interruption 10.0
45 bicornuate uterus 10.0
46 orofacial clefting syndrome 10.0
47 nephrotic syndrome 10.0
48 syngnathia 9.9
49 coarctation of aorta 9.9
50 systemic lupus erythematosus 9.9

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



Diseases related to Fryns Syndrome

Symptoms & Phenotypes for Fryns Syndrome

Human phenotypes related to Fryns Syndrome:

58 31 (show top 50) (show all 90)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
3 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 aplasia/hypoplasia of the nipples 58 31 hallmark (90%) Very frequent (99-80%) HP:0006709
6 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
7 low-set, posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000368
8 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
9 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
10 congenital diaphragmatic hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000776
11 severe global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344
12 multicystic kidney dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000003
13 tented upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0010804
14 hypoplastic fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001804
15 pulmonary hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002089
16 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
17 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
18 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
19 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
20 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
21 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
22 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
23 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
24 thickened nuchal skin fold 58 31 frequent (33%) Frequent (79-30%) HP:0000474
25 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
26 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
27 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
28 polyhydramnios 58 31 very rare (1%) Frequent (79-30%) HP:0001561
29 tetralogy of fallot 58 31 frequent (33%) Frequent (79-30%) HP:0001636
30 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
31 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
32 median cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0000161
33 non-midline cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0100335
34 seizure 31 frequent (33%) HP:0001250
35 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
36 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
37 aganglionic megacolon 58 31 occasional (7.5%) Occasional (29-5%) HP:0002251
38 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
39 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
40 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
41 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
42 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
43 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
44 abnormal aortic arch morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012303
45 narrow chest 58 31 occasional (7.5%) Occasional (29-5%) HP:0000774
46 omphalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0001539
47 ectopic anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0004397
48 duodenal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002247
49 bicornuate uterus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000813
50 seizures 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
dandy-walker malformation
arrhinencephaly
hypoplasia of olfactory tract
hypoplasia of the optic tract
more
Head And Neck Nose:
anteverted nares
broad nasal bridge

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Genitourinary Kidneys:
hydronephrosis
renal agenesis
renal cysts

Abdomen Gastrointestinal:
intestinal malrotation
esophageal atresia
duodenal atresia
meckel diverticulum
imperforate anus
more
Abdomen External Features:
omphalocele

Skin Nails Hair Skin:
single transverse palmar crease
prominent fingertip pads

Genitourinary Internal Genitalia Female:
bicornuate uterus
uterine atresia
cervical atresia
uterus and vagina duplex

Abdomen Pancreas:
ectopic pancreatic tissue

Skin Nails Hair Hair:
hirsute face

Cardiovascular Vascular:
aortic arch anomalies

Abdomen Spleen:
multiple accessory spleens

Skeletal Feet:
hypoplasia of the distal phalanges
'rocker-bottom' feet

Head And Neck Eyes:
hypertelorism
microphthalmia
narrow palpebral fissures
cloudy cornea

Head And Neck Mouth:
cleft palate
cleft lip
macrostomia (large mouth)
tented upper lip

Head And Neck Ears:
low-set ears
abnormal helices
poorly formed ears

Genitourinary External Genitalia Male:
bifid scrotum
hypospadias
shawl scrotum

Head And Neck Face:
long philtrum
microretrognathia
coarse face
hirsute face

Growth Other:
large for gestational age

Skeletal Hands:
single transverse palmar crease
camptodactyly
prominent fingertip pads
short terminal phalanges
hypoplasia of the distal phalanges
more
Respiratory Lung:
pulmonary hypoplasia
pulmonary lobation defect

Chest External Features:
chylothorax
small thorax

Skin Nails Hair Nails:
hypoplastic nails
absent nails

Head And Neck Neck:
short broad neck

Chest Diaphragm:
diaphragmatic defect, often unilateral and left-sided

Genitourinary Ureters:
ureteral cysts
duplicate ureter
atretic ureter

Clinical features from OMIM®:

229850 (Updated 20-May-2021)

UMLS symptoms related to Fryns Syndrome:


seizures

Drugs & Therapeutics for Fryns Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular 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 29

Anatomical Context for Fryns Syndrome

MalaCards organs/tissues related to Fryns Syndrome:

40
Uterus, Eye, Heart, Kidney, Colon, Cortex, Brain

Publications for Fryns Syndrome

Articles related to Fryns Syndrome:

(show top 50) (show all 291)
# Title Authors PMID Year
1
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. 25 57 61
27038415 2016
2
Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? 25 57 61
16283673 2005
3
Fryns syndrome: a review of the phenotype and diagnostic guidelines. 25 61 57
14735597 2004
4
Fryns syndrome: report on 8 new cases. 61 25 57
2650934 1989
5
Bilateral congenital diaphragmatic hernia: Differentiation between Pallister-Killian and Fryns syndromes. 25 57
12124742 2002
6
A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. 57 25
381161 1979
7
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. 61 57
20799323 2010
8
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 61 57
19800039 2009
9
Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome. 57 61
16333846 2006
10
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. 61 57
16141010 2005
11
Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. 61 57
16440878 2005
12
Eye abnormalities in Fryns syndrome. 61 57
14994236 2004
13
Documentation of anomalies not previously described in Fryns syndrome. 57 61
12494439 2003
14
Variability in the phenotypic expression of fryns syndrome: A report of two sibships. 61 57
11146459 2000
15
Discordant phenotype in monozygotic twins with Fryns syndrome. 57 61
10982481 2000
16
Scalp defects in Fryns syndrome. 61 57
9664213 1998
17
Fryns syndrome and erupted teeth in a 24-weeks-old fetus. 61 57
8831132 1996
18
Fryns syndrome survivors and neurologic outcome. 61 57
8599357 1995
19
Fryns syndrome: two further cases without lateral diaphragmatic defects. 61 57
8574427 1995
20
Fryns syndrome: neurologic findings in a survivor. 61 57
7782599 1995
21
Lethal Pallister-Killian syndrome: phenotypic similarity with Fryns syndrome. 61 57
7856644 1994
22
Pallister-Killian and Fryns syndromes: nosology. 61 57
8213912 1993
23
Fryns syndrome: another example of non-lethal outcome with severe mental handicap. 61 57
1472353 1992
24
Apparent Fryns' syndrome and aneuploidy: evidence for a disturbance of the midline developmental field. 57 61
1756610 1991
25
Fryns syndrome without diaphragmatic hernia? 57 61
1785645 1991
26
Osteochondrodysplasia in Fryns syndrome. 61 57
1903587 1991
27
Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair? 57 61
2363440 1990
28
Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. 57 61
2314962 1990
29
Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2. 61 57
2596530 1989
30
Ring chromosome 15 in a patient with features of Fryns' syndrome. 61 57
2746621 1989
31
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. 57 61
3239572 1988
32
Fryns syndrome. 61 57
3346889 1988
33
Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. 61 57
3585941 1987
34
Fryns syndrome: a predictable, lethal pattern of multiple congenital anomalies. 57 61
3799773 1987
35
Fryns syndrome in a girl born to consanguineous parents. 57 61
3564997 1987
36
A case of Fryns syndrome. 57 61
3950939 1986
37
The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. 61 57
4075561 1985
38
Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. 57 61
6859098 1983
39
Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. 25 61
29330547 2018
40
Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype. 61 25
28437579 2017
41
Prenatal and postnatal findings in five cases of Fryns syndrome. 61 25
24996149 2014
42
Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. 57
16736036 2006
43
Fryns syndrome in children with congenital diaphragmatic hernia. 61 25
12483630 2002
44
Ocular findings in Fryns syndrome. 25 61
11167240 2000
45
Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation. 57
7894732 1994
46
Association of a new chromosomal deletion [del(1)(q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene. 57
3162227 1988
47
Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome. 57
7400786 1980
48
Absent left hemidiaphragm, arhinencephaly, and cardiac malformations. 57
739533 1978
49
Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review. 25
30652519 2020
50
Biosynthesis and biology of mammalian GPI-anchored proteins. 25
32156170 2020

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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