CFND
MCID: CRN005
MIFTS: 55

Craniofrontonasal Syndrome (CFND) malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases categories

Summaries for Craniofrontonasal Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Craniofrontonasal dysplasia is a rare genetic condition caused by a change (mutation) in the efnb1 gene.  main features of this condition include widely spaced eyes (hypertelorism), broad-tipped nose, broad head (brachycephaly), prominent forehead (frontal bossing), asymmetry of facial features, and/or crossed eyes (strabismus).  individuals with craniofrontonasal dysplasia have normal intelligence.  women affected with this condition generally have more symptoms than affected men.   treatment may include surgery to correct the shape of the skull or to adjust the facial features associated with this condition. last updated: 9/29/2011

MalaCards: Craniofrontonasal Syndrome, also known as craniofrontonasal dysplasia, is related to dysostosis and brachycephalofrontonasal dysplasia, and has symptoms including camptodactyly of fingers, narrow/sloping shoulders and hypospadias/epispadias/bent penis. An important gene associated with Craniofrontonasal Syndrome is EFNB1 (ephrin-B1), and among its related pathways are Rho GTPase cycle and Tyrosine Kinases / Adaptors. The compound tyrosine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and skin, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Wikipedia:66 Craniofrontonasal dysplasia (Craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very... more...

Description from OMIM:48 304110

Aliases & Classifications for Craniofrontonasal Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 21GeneTests, 11DISEASES, 50Orphanet, 10diseasecard, 23GTR, 48OMIM, 63UMLS, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
craniofrontonasal dysplasia:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

craniofrontonasal syndrome 9 44 21 11 50
craniofrontonasal dysplasia 9 10 44 23 48 50 63
cfns 44 50
cfnd 44 50
craniofrontonasal dysostosis 44


External Ids:

Disease Ontology9 DOID:14737
OMIM48 304110
MeSH36 C536456
MESH via Orphanet37 C536456
ICD10 via Orphanet27 Q87.1
UMLS via Orphanet64 C0220767

Related Diseases for Craniofrontonasal Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Craniofrontonasal Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dysostosis10.5
2brachycephalofrontonasal dysplasia10.3
3congenital diaphragmatic hernia10.3
4craniofrontonasal syndrome teebi type10.3
5frontonasal dysplasia10.2
6webster deming syndrome10.2
7frontonasal dysplasia 210.2
8frontonasal dysplasia 110.1

Graphical network of diseases related to Craniofrontonasal Syndrome:



Diseases related to craniofrontonasal syndrome

Symptoms for Craniofrontonasal Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

304110

Clinical features from OMIM:

304110

Symptoms:

50 (show all 42)
  • camptodactyly of fingers
  • narrow/sloping shoulders
  • hypospadias/epispadias/bent penis
  • upper limb polydactyly/hexadactyly
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • craniostenosis/craniosynostosis/sutural synostosis
  • wide space between 1st-2nd toes
  • excess nuchal skin without pterygium colli
  • high hair line (front)/widow peak
  • diaphragmatic hernia/defect/agenesis
  • clavicle absent/abnormal
  • plagiocephaly
  • woolly/frizzy hair
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails
  • shawl scrotum
  • bifid tip/cleft nose/supernumerary nose
  • abnormal hair texture/hair dysplasia
  • clinodactyly of fifth finger
  • cleft lip and palate
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • hypotonia
  • high vaulted/narrow palate
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • scoliosis
  • corpus callosum/septum pellucidum total/partial agenesis
  • syndactyly of fingers/interdigital palm
  • pectus excavatum
  • hypertelorism
  • broad nose/nasal bridge
  • sensorineural deafness/hearing loss
  • flattened nose
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • low hair line (back)
  • hypoplastic/absent nipples
  • hyperextensible joints/articular hyperlaxity
  • short hand/brachydactyly
  • brachycephaly/flat occiput
  • microcephaly
  • broad/bifid big toe
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Craniofrontonasal Syndrome

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

Search CenterWatch for Craniofrontonasal Syndrome

Drug clinical trials:

Search ClinicalTrials for Craniofrontonasal Syndrome

Search NIH Clinical Center for Craniofrontonasal Syndrome

Search CenterWatch for Craniofrontonasal Syndrome

Genetic Tests for Craniofrontonasal Syndrome

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

id Genetic test Affiliating Genes
1 Craniofrontonasal Syndrome21 EFNB1
2 Craniofrontonasal Dysplasia23

Anatomical Context for Craniofrontonasal Syndrome

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34MalaCards
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MalaCards organs/tissues related to Craniofrontonasal Syndrome:

34
Eye, Bone, Skin

Animal Models for Craniofrontonasal Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Craniofrontonasal Syndrome:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.8EFNB1, EPHB2, EFNB2
2MP:00053828.8EDA, EFNB2, EFNB1, EPHB2
3MP:00053818.7EDA, EFNB2, EPHB2, EFNB1
4MP:00053918.7EFNB1, EPHB2, EFNB2, EDA
5MP:00053798.6EPHB2, EFNB1, EDA, EFNB2
6MP:00053678.5EDA, EFNB2, EPHB2, NCK2
7MP:00053898.5EPHB2, EDA, EFNB1, EFNB2
8MP:00107687.9EDA, OPHN1, NCK2, EFNB2, EFNB1, EPHB2
9MP:00053847.8EFNB2, EPHB2, EFNA2, NCK2, EFNB1
10MP:00053787.7NCK2, EDA, EFNB1, EFNB2, EPHB2
11MP:00036317.3NCK2, EPHB2, EDA, OPHN1, EFNB2, EFNA2

Publications for Craniofrontonasal Syndrome

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53PubMed
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Articles related to Craniofrontonasal Syndrome:

(show all 27)
idTitleAuthorsYear
1
A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome. (23509643)
2013
2
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. (23335590)
2013
3
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1. (24281372)
2013
4
Anomalous ovarian morphology in a patient with craniofrontonasal syndrome. (23550873)
2013
5
A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication. (23845783)
2013
6
Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox. (23614707)
2013
7
A Novel de Novo Mutation Within EFNB1 Gene in a Young Girl With Craniofrontonasal Syndrome. (21385071)
2012
8
Diverse clinical and genetic aspects of craniofrontonasal syndrome. (21215906)
2011
9
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. (20734337)
2010
10
Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome. (18386322)
2008
11
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. (18043713)
2008
12
Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome. (18386327)
2008
13
Additional EFNB1 mutations in craniofrontonasal syndrome. (18627045)
2008
14
EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome. (17300690)
2007
15
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. (17941886)
2007
16
A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome. (16526919)
2006
17
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. (16685650)
2006
18
Inhibition of gap junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndrome. (16968134)
2006
19
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. (16639408)
2006
20
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). (15959873)
2005
21
Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox. (16143553)
2005
22
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. (15166289)
2004
23
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. (15124102)
2004
24
Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome. (12002152)
2002
25
Craniofrontonasal syndrome and diaphragmatic hernia. (12116215)
2002
26
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. (9302274)
1997
27
Craniofrontonasal syndrome: study of 41 patients. (8669441)
1996

Variations for Craniofrontonasal Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Craniofrontonasal Syndrome:

65 (show all 19)
id Symbol AA change Variation ID SNP ID
1EFNB1p.Pro27ArgVAR_023127
2EFNB1p.Pro54LeuVAR_023128
3EFNB1p.Ile62ThrVAR_023129
4EFNB1p.Leu98SerVAR_023130
5EFNB1p.Thr111IleVAR_023131
6EFNB1p.Gln115ProVAR_023132
7EFNB1p.Pro119HisVAR_023133
8EFNB1p.Pro119SerVAR_023134
9EFNB1p.Pro119ThrVAR_023135
10EFNB1p.Thr137AlaVAR_023136
11EFNB1p.Ser138PheVAR_023137
12EFNB1p.Gly151SerVAR_023138rs28936069
13EFNB1p.Gly151ValVAR_023139rs28936070
14EFNB1p.Cys153SerVAR_023140
15EFNB1p.Cys153TyrVAR_023141
16EFNB1p.Thr155ProVAR_023143
17EFNB1p.Met158IleVAR_023144rs28935170
18EFNB1p.Met158ValVAR_023145rs28936071
19EFNB1p.Ser182ArgVAR_023146

Clinvar genetic disease variations for Craniofrontonasal Syndrome:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1EFNB1NM_004429.4(EFNB1): c.496C> T (p.Gln166Ter)single nucleotide variantPathogenicGRCh37Chr X, 68059596: 68059596
2EFNB1NC_000023.11: g.(68839265_68839268)_(68847656_68847659)deldeletionPathogenicGRCh37Chr X, 68059111: 68067499
3EFNB1EFNB1, EX2-5DELdeletionPathogenic
4EFNB1NM_004429.4(EFNB1): c.332C> T (p.Thr111Ile)single nucleotide variantPathogenicrs104894796GRCh37Chr X, 68058663: 68058663
5EFNB1NM_004429.4(EFNB1): c.161C> T (p.Pro54Leu)single nucleotide variantPathogenicrs104894801GRCh37Chr X, 68058492: 68058492
6EFNB1NM_004429.4(EFNB1): c.451G> A (p.Gly151Ser)single nucleotide variantPathogenicrs28936069GRCh37Chr X, 68059551: 68059551
7EFNB1NM_004429.4(EFNB1): c.452G> T (p.Gly151Val)single nucleotide variantPathogenicrs28936070GRCh37Chr X, 68059552: 68059552
8EFNB1NM_004429.4(EFNB1): c.472A> G (p.Met158Val)single nucleotide variantPathogenicrs28936071GRCh37Chr X, 68059572: 68059572
9EFNB1NM_004429.4(EFNB1): c.474G> T (p.Met158Ile)single nucleotide variantPathogenicrs28935170GRCh37Chr X, 68059574: 68059574
10EFNB1NM_004429.4(EFNB1): c.109T> G (p.Trp37Gly)single nucleotide variantPathogenicrs104894802GRCh37Chr X, 68049728: 68049728
11EFNB1NM_004429.4(EFNB1): c.110G> A (p.Trp37Ter)single nucleotide variantPathogenicrs104894803GRCh37Chr X, 68049729: 68049729
12EFNB1NM_004429.4(EFNB1): c.196C> T (p.Arg66Ter)single nucleotide variantPathogenicrs104894804GRCh37Chr X, 68058527: 68058527

Expression for genes affiliated with Craniofrontonasal Syndrome

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

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Pathways for genes affiliated with Craniofrontonasal Syndrome

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51PathCards, 56Reactome, 5Cell Signaling Technology, 54QIAGEN, 61Thomson Reuters, 39NCBI BioSystems Database, 13EMD Millipore, 31KEGG
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Pathways related to Craniofrontonasal Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6OPHN1, STARD8
29.3EFNB2, EFNB1
39.3EFNB2, EFNB1
49.3NCK2, EFNA2
5
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion61
Pathogenic Escherichia coli infection39
9.3EFNA2, NCK2
68.4EFNB1, EFNB2, EPHB2, NCK2
77.8NCK2, EPHB2, EFNB2, EFNA2, EFNB1
8
Show member pathways
Cell adhesion Ephrins signaling61
MAP kinase cascade39
EphrinB-EPHB pathway39
7.8NCK2, EPHB2, EFNB2, EFNA2, EFNB1
9
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B61
7.8EFNB1, EFNA2, EFNB2, EPHB2, NCK2

Compounds for genes affiliated with Craniofrontonasal Syndrome

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46Novoseek
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Compounds related to Craniofrontonasal Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine467.8NCK2, EPHB2, EFNB2, EFNA2, EFNB1

GO Terms for genes affiliated with Craniofrontonasal Syndrome

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17Gene Ontology
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Cellular components related to Craniofrontonasal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058878.5EPHB2, EFNB2, EFNB1, EDA

Biological processes related to Craniofrontonasal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of T cell proliferationGO:0421029.6NCK2, EFNB1
2cell-cell signalingGO:0072678.4EFNB2, EFNA2, EFNB1
3ephrin receptor signaling pathwayGO:0480138.2EFNB1, EFNA2, EFNB2, EPHB2
4axon guidanceGO:0074117.4OPHN1, NCK2, EPHB2, EFNB2, EFNA2, EFNB1

Molecular functions related to Craniofrontonasal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ephrin receptor bindingGO:0468758.7EFNB2, EFNA2, EFNB1

Products for genes affiliated with Craniofrontonasal Syndrome

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Sources for Craniofrontonasal 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