FRNS
MCID: FRY002
MIFTS: 42

Fryns Syndrome (FRNS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases categories

Summaries for Fryns Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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: Fryns Syndrome, also known as diaphragmatic hernia, abnormal face, and distal limb anomalies, is related to lujan fryns syndrome and congenital diaphragmatic hernia, and has symptoms including imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula, excess nuchal skin without pterygium colli and dandy-walker anomaly. An important gene associated with Fryns Syndrome is MED12 (mediator complex subunit 12). Affiliated tissues include kidney, lung and brain.

Genetics Home Reference:22 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.

Wikipedia:66 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in... more...

Description from OMIM:48 229850

GeneReviews summary for fryns

Aliases & Classifications for Fryns Syndrome

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 50Orphanet, 48OMIM, 63UMLS, 64UMLS via Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
fryns syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

fryns syndrome 20 44 21 23 22 50 48 63
diaphragmatic hernia, abnormal face, and distal limb anomalies 44 22
diaphragmatic hernia - abnormal face - distal limb anomalies 50
moerman van den berghe fryns syndrome 44
frontotemporal dementia 63
frns 44


External Ids:

UMLS via Orphanet64 C0220730
OMIM48 229850
MESH via Orphanet37 C538070
ICD10 via Orphanet27 Q87.8

Related Diseases for Fryns Syndrome

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

229850

Clinical features from OMIM:

229850

Symptoms:

50 (show all 51)
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • excess nuchal skin without pterygium colli
  • dandy-walker anomaly
  • vesicorenal/vesicoureteral reflux
  • clinodactyly of fifth finger
  • polyhydramnios
  • uterine/uterus/fallopian tubes anomalies
  • cardiac septal defect
  • tetralogy of fallot/trilogy of fallot
  • absent/small fingernails/anonychia of hands
  • intestinal/gut/bowel malrotation
  • hypospadias/epispadias/bent penis
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • duodenal atresia/stenosis/megaduodenum
  • median cleft lip
  • omphalocele/exomphalos
  • anus ectopia/anteposition/malposition
  • tented upper lip
  • terminal/third phalangeal bone of fingers hypoplasia
  • diaphragmatic hernia/defect/agenesis
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • multicystic kidney/renal dysplasia
  • macrostomia/big mouth
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • anteverted nares/nostrils
  • broad nose/nasal bridge
  • corneal clouding/opacity/vascularisation
  • coarse face
  • high vaulted/narrow palate
  • seizures/epilepsy/absences/spasms/status epilepticus
  • corpus callosum/septum pellucidum total/partial agenesis
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • autosomal recessive inheritance
  • short neck
  • low set ears/posteriorly rotated ears
  • long philtrum
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • micrognathia/retrognathia/micrognathism/retrognathism
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • broad forehead
  • megaureter/hydronephrosis/pyeloureteral junction syndrome
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • dolichocolon/megacolon/megadolichocolon/hirschsprung's disease
  • dilated cerebral ventricles without hydrocephaly
  • stillbirth/neonatal death
  • hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption
  • hypoplastic/absent nipples
  • abnormally placed nipples
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • narrow rib cage/thorax
  • hypertelorism

Drugs & Therapeutics for Fryns Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Fryns Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Fryns Syndrome:

id Genetic test Affiliating Genes
1 Fryns Syndrome21 23

Anatomical Context for Fryns Syndrome

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34MalaCards
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MalaCards organs/tissues related to Fryns Syndrome:

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

Animal Models for Fryns Syndrome or affiliated genes

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Publications for Fryns Syndrome

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53PubMed
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Articles related to Fryns Syndrome:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands. (24357154)
2013
2
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. (23338167)
2013
3
Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings. (23604607)
2013
4
Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia. (21259013)
2011
5
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. (19800039)
2009
6
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
7
Fryns syndrome: case report and review of the literature. (17960800)
2008
8
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. (16760741)
2006
9
Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. (16440878)
2005
10
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. (16141010)
2005
11
Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. (15580636)
2005
12
Fryns syndrome with osteochondrodysplasia. (15793837)
2005
13
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. (16094260)
2005
14
A Fryns syndrome-like phenotype with mosaic t(1;22)(q12;p12) chromosomal translocation. (15057129)
2004
15
Documentation of anomalies not previously described in Fryns syndrome. (12494439)
2003
16
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. (12784307)
2003
17
Expanding the limits of the Fryns syndrome. (12949980)
2003
18
Pathologic quiz case: hypoplastic digit, diaphragmatic hernia, and agenesis of the corpus callosum in a 21(5/7)-week fetus. Fryns syndrome. (14567736)
2003
19
Fryns syndrome. (12215698)
2002
20
Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemidiaphragmatic agenesis. (12047706)
2002
21
Fryns syndrome in children with congenital diaphragmatic hernia. (12483630)
2002
22
A fetus with pseudo Fryns syndrome and t(18;22) translocation. (11491314)
2001
23
Ocular findings in Fryns syndrome. (11167240)
2000
24
Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22. (10893671)
2000
25
Discordant phenotype in monozygotic twins with Fryns syndrome. (10982481)
2000
26
Aortic root dilation in apparent Lujan-Fryns syndrome. (10508979)
1999
27
Hematometra and sudden death after status epilepticus in the adolescent female with Fryns syndrome. (10546108)
1999
28
Scalp defects in Fryns syndrome. (9664213)
1998
29
Fryns syndrome: prenatal diagnosis and pathologic correlation. (9733178)
1998
30
Use of three-dimensional ultrasound to establish the prenatal diagnosis of Fryns syndrome. (8894628)
1996
31
Fryns syndrome and erupted teeth in a 24-weeks-old fetus. (8831132)
1996
32
Fryns syndrome survivors and neurologic outcome. (8599357)
1995
33
Prenatal diagnosis and long survival of Fryns syndrome. (7740009)
1995
34
Fryns syndrome: neurologic findings in a survivor. (7782599)
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 rare familial cause of congenital diaphragmatic hernia. (7807364)
1994
38
Fryns syndrome. (8456824)
1993
39
A girl with the Lujan-Fryns syndrome. (2018074)
1991
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
Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2. (2596530)
1989
43
Ring chromosome 15 in a patient with features of Fryns' syndrome. (2746621)
1989
44
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
45
Fryns syndrome. (3346889)
1988
46
Fryns syndrome: a predictable, lethal pattern of multiple congenital anomalies. (3799773)
1987
47
Fryns syndrome in a girl born to consanguineous parents. (3564997)
1987
48
Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. (3585941)
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Fryns Syndrome:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1MAPTNM_016835.4(MAPT): c.1853C> T (p.Pro618Leu)single nucleotide variantPathogenicrs63751273GRCh37Chr 17, 44087755: 44087755
2MAPTNM_016835.4(MAPT): c.1766G> T (p.Gly589Val)single nucleotide variantPathogenicrs63750376GRCh37Chr 17, 44074023: 44074023
3MAPTNM_016835.4(MAPT): c.2167C> T (p.Arg723Trp)single nucleotide variantPathogenicrs63750424GRCh37Chr 17, 44101427: 44101427
4MAPTNM_016835.4(MAPT): c.1866+14C> Tsingle nucleotide variantPathogenicrs63750972GRCh37Chr 17, 44087782: 44087782
5MAPTNM_016835.4(MAPT): c.1960G> A (p.Val654Met)single nucleotide variantPathogenicrs63750570GRCh37Chr 17, 44095995: 44095995
6MAPTNM_016835.4(MAPT): c.1788T> G (p.Asn596Lys)single nucleotide variantPathogenicrs63750756GRCh37Chr 17, 44087690: 44087690
7MAPTNM_016835.4(MAPT): c.1865G> A (p.Ser622Asn)single nucleotide variantPathogenicrs63751165GRCh37Chr 17, 44087767: 44087767
8MAPTNM_016835.4(MAPT): c.1852C> T (p.Pro618Ser)single nucleotide variantPathogenicrs63751438GRCh37Chr 17, 44087754: 44087754
9MAPTNM_016835.4(MAPT): c.1839T> C (p.Asn613=)single nucleotide variantPathogenicrs63750912GRCh37Chr 17, 44087741: 44087741
10MAPTNM_016835.4(MAPT): c.1976A> T (p.Glu659Val)single nucleotide variantPathogenicrs63750711GRCh37Chr 17, 44096011: 44096011
11MAPTNM_016835.4(MAPT): c.14G> A (p.Arg5His)single nucleotide variantPathogenicrs63750959GRCh37Chr 17, 44039717: 44039717
12MAPTNM_016835.4(MAPT): c.1747C> G (p.Leu583Val)single nucleotide variantPathogenicrs63750349GRCh37Chr 17, 44074004: 44074004
13MAPTNM_016835.4(MAPT): c.1901A> T (p.Lys634Met)single nucleotide variantPathogenicrs63750092GRCh37Chr 17, 44091643: 44091643
14PSEN1NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro)single nucleotide variantPathogenicrs63751399GRCh37Chr 14, 73637755: 73637755

Expression for genes affiliated with Fryns Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fryns Syndrome

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Pathways for genes affiliated with Fryns Syndrome

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Compounds for genes affiliated with Fryns Syndrome

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GO Terms for genes affiliated with Fryns Syndrome

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Products for genes affiliated with Fryns Syndrome

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  • Antibodies
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  • Antibodies

Sources for Fryns Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet