FRNS
MCID: FRY002
MIFTS: 42

Fryns Syndrome (FRNS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories
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Summaries for Fryns Syndrome

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NIH Rare Diseases:42 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 congenital diaphragmatic hernia, 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 kidney, lung and brain.

Genetics Home Reference:21 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:65 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in... more...

Description from OMIM:46 229850

GeneReviews summary for fryns

Aliases & Classifications for Fryns Syndrome

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Sources:
19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 48Orphanet, 46OMIM, 62UMLS, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Fryns Syndrome, Aliases & Descriptions:

Name: Fryns Syndrome 19 42 20 22 21 48 46 62
Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies 42 21
Moerman Van Den Berghe Fryns Syndrome 42 62
 
Diaphragmatic Hernia - Abnormal Face - Distal Limb Anomalies 48
Frns 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
fryns syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

UMLS via Orphanet63 C0220730
OMIM46 229850
MESH via Orphanet35 C538070
ICD10 via Orphanet26 Q87.8

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:

48 (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

HPO human phenotypes related to Fryns Syndrome:

(show all 107)
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 autosomal recessive inheritance HP:0000007
46 cryptorchidism HP:0000028
47 hypospadias HP:0000047
48 bifid scrotum HP:0000048
49 shawl scrotum HP:0000049
50 ureteral duplication HP:0000073
51 renal agenesis HP:0000104
52 renal cyst HP:0000107
53 hydronephrosis HP:0000126
54 wide mouth HP:0000154
55 cleft palate HP:0000175
56 cleft upper lip HP:0000204
57 coarse facial features HP:0000280
58 microretrognathia HP:0000308
59 hypertelorism HP:0000316
60 long philtrum HP:0000343
61 low-set ears HP:0000369
62 wide nasal bridge HP:0000431
63 anteverted nares HP:0000463
64 short neck HP:0000470
65 broad neck HP:0000475
66 broad neck HP:0000475
67 microphthalmos HP:0000568
68 blepharophimosis HP:0000581
69 bicornuate uterus HP:0000813
70 thin ribs HP:0000883
71 broad ribs HP:0000885
72 single transverse palmar crease HP:0000954
73 prominent fingertip pads HP:0001212
74 intellectual disability HP:0001249
75 seizures HP:0001250
76 agenesis of corpus callosum HP:0001274
77 dandy-walker malformation HP:0001305
78 large for gestational age HP:0001520
79 omphalocele HP:0001539
80 ventricular septal defect HP:0001629
81 defect in the atrial septum HP:0001631
82 polysplenia HP:0001748
83 small nail HP:0001792
84 anonychia HP:0001798
85 rocker bottom foot HP:0001838
86 anal atresia HP:0002023
87 esophageal atresia HP:0002032
88 pulmonary hypoplasia HP:0002089
89 arrhinencephaly HP:0002139
90 meckel diverticulum HP:0002245
91 duodenal atresia HP:0002247
92 aganglionic megacolon HP:0002251
93 intestinal malrotation HP:0002566
94 thoracic hypoplasia HP:0005257
95 ectopic pancreatic tissue HP:0006278
96 hypoplasia of olfactory tract HP:0007036
97 hypoplasia of the optic tract HP:0007096
98 opacification of the corneal stroma HP:0007759
99 absent left hemidiaphragm HP:0009112
100 joint contracture of the hand HP:0009473
101 proximal placement of thumb HP:0009623
102 short thumb HP:0009778
103 short distal phalanx of finger HP:0009882
104 facial hirsutism HP:0009937
105 chylothorax HP:0010310
106 abnormality of the helix HP:0011039
107 camptodactyly HP:0012385

Drugs & Therapeutics for Fryns Syndrome

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Drug clinical trials:

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Genetic Tests for Fryns Syndrome

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Genetic tests related to Fryns Syndrome:

id Genetic test Affiliating Genes
1 Fryns Syndrome20 22

Anatomical Context for Fryns Syndrome

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MalaCards organs/tissues related to Fryns Syndrome:

32
Kidney, Lung, Brain, Testes, Bone, Skin, Uterus, Eye

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 85)
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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Expression for genes affiliated with Fryns Syndrome

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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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Sources for Fryns Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet