MCID: FRY002
MIFTS: 35

Fryns Syndrome malady

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

Aliases & Classifications for Fryns Syndrome

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Sources:
21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Fryns Syndrome:

Name: Fryns Syndrome 21 45 22 23 51 24 65
Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies 45 23
Diaphragmatic Hernia-Abnormal Face-Distal Limb Anomalies Syndrome 51
 
Moerman Van Den Berghe Fryns Syndrome 45
Frns 45

Characteristics:

Orphanet epidemiological data:

51
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

Classifications:



External Ids:

Orphanet51 2059
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C538070
UMLS via Orphanet66 C0220730
UMLS65 C0220730

Summaries for Fryns Syndrome

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NIH Rare Diseases:45 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 broad forehead, micrognathia/retrognathia/micrognathism/retrognathism and broad nose/nasal bridge. An important gene associated with Fryns Syndrome is MED12 (Mediator Complex Subunit 12). Affiliated tissues include lung, kidney and brain.

Genetics Home Reference:23 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:68 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:

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

UMLS symptoms related to Fryns Syndrome:


observation of narrowing of palpebral fissure, seizures

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 Syndrome22

Anatomical Context for Fryns Syndrome

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MalaCards organs/tissues related to Fryns Syndrome:

33
Lung, Kidney, Brain, Testes, Skin, Bone, Uterus

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 88)
idTitleAuthorsYear
1
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. (27038415)
2016
2
Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands. (24357154)
2013
3
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome. (23338167)
2013
4
Fryns Syndrome: A Lethal Birth Defect with Variable Phenotypic Expressions in Siblings. (23604607)
2013
5
Fryns syndrome a presentation of two siblings with congenital diaphragmatic hernia. (21259013)
2011
6
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. (19800039)
2009
7
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
8
Fryns syndrome: case report and review of the literature. (17960800)
2008
9
Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome. (16760741)
2006
10
Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. (16440878)
2005
11
Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. (16141010)
2005
12
Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. (15580636)
2005
13
Fryns syndrome with osteochondrodysplasia. (15793837)
2005
14
Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms. (16094260)
2005
15
A Fryns syndrome-like phenotype with mosaic t(1;22)(q12;p12) chromosomal translocation. (15057129)
2004
16
Documentation of anomalies not previously described in Fryns syndrome. (12494439)
2003
17
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome. (12784307)
2003
18
Expanding the limits of the Fryns syndrome. (12949980)
2003
19
Pathologic quiz case: hypoplastic digit, diaphragmatic hernia, and agenesis of the corpus callosum in a 21(5/7)-week fetus. Fryns syndrome. (14567736)
2003
20
Fryns syndrome. (12215698)
2002
21
Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemidiaphragmatic agenesis. (12047706)
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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet