CFND
MCID: CRN005
MIFTS: 57

Craniofrontonasal Syndrome (CFND) malady

Neuronal diseases, Bone diseases, Fetal diseases categories

Summaries for Craniofrontonasal Syndrome

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 intellectual deficit/mental/psychomotor retardation/learning disability, woolly/frizzy hair and abnormal hair texture/hair dysplasia. An important gene associated with Craniofrontonasal Syndrome is EFNB1 (ephrin-B1), and among its related pathways are EphrinA-EphR Signaling and EPHA forward signaling. The compound tyrosine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and skin, and related mouse phenotypes are reproductive system and craniofacial.

Wikipedia:63 Craniofrontonasal dysplasia (Craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very... more...

Description from OMIM:46 304110

Aliases & Classifications for Craniofrontonasal Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
craniofrontonasal dysplasia:
Inheritance: X-linked dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

craniofrontonasal syndrome 8 42 20 10 48
craniofrontonasal dysplasia 8 9 42 22 46 48 60
cfns 42 48
cfnd 42 48
craniofrontonasal dysostosis 42


External Ids:

Disease Ontology8 DOID:14737
OMIM46 304110
MeSH34 C536456
MESH via Orphanet35 C536456
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet61 C0220767

Related Diseases for Craniofrontonasal Syndrome

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Craniofrontonasal Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dysostosis10.4
2brachycephalofrontonasal dysplasia10.3
3congenital diaphragmatic hernia10.2
4craniofrontonasal syndrome teebi type10.2
5webster deming syndrome10.1
6frontonasal dysplasia 210.1
7frontonasal dysplasia 110.1
8stomach cancer10.0EPHB2
9craniosynostosis10.0EFNB1

Graphical network of diseases related to Craniofrontonasal Syndrome:



Diseases related to craniofrontonasal syndrome

Clinical Features for Craniofrontonasal Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

304110

Clinical synopsis from OMIM:

304110

Symptoms:

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

Drugs & Therapeutics for Craniofrontonasal Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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Genetic tests related to Craniofrontonasal Syndrome:

id Genetic test Affiliating Genes
1 Craniofrontonasal Syndrome20 EFNB1
2 Craniofrontonasal Dysplasia22

Anatomical Context for Craniofrontonasal Syndrome

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32MalaCards
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MalaCards organs/tissues related to Craniofrontonasal Syndrome:

32
Eye, Bone, Skin

Animal Models for Craniofrontonasal Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Craniofrontonasal Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053899.7EPHB2, EDA
2MP:00053828.6EPHB2, EFNB1, EFNB2, EDA
3MP:00036317.3EPHB2, OPHN1, EDA, NCK2, EFNA2, EFNB2
4MP:00053787.2EDA, NCK2, EFNB2, EFNB1, EPHB2, EPHA1

Publications for Craniofrontonasal Syndrome

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50PubMed
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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

Genetic Variations for Craniofrontonasal Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Craniofrontonasal Syndrome:

62 (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

Expression for genes affiliated with Craniofrontonasal Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Craniofrontonasal Syndrome

Search GEO for disease gene expression data for Craniofrontonasal Syndrome.

Pathways for genes affiliated with Craniofrontonasal Syndrome

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51QIAGEN, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG
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Pathways related to Craniofrontonasal Syndrome according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3EPHA1, EFNA2
29.3EPHA1, EFNA2
3
G-protein signaling RhoA regulation pathway
Hide members
9.3EPHA1, EFNA2
49.0EPHB2, EFNB1, EFNB2
5
Hide members
9.0NCK2, EPHB2, EPHA1
68.8NCK2, EFNA2, EPHA1
7
Cytoskeleton remodeling Reverse signaling by ephrin B
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8.5NCK2, EFNB2, EFNB1, EPHB2
88.5NCK2, EFNB2, EFNB1, EPHB2
9
Hide members
7.3NCK2, EFNA2, EFNB2, EFNB1, EPHB2, EPHA1
107.3NCK2, EFNA2, EFNB2, EFNB1, EPHB2, EPHA1
11
Cell adhesion Ephrins signaling
Hide members
7.3EPHA1, EPHB2, EFNB1, EFNB2, EFNA2, NCK2

Compounds for genes affiliated with Craniofrontonasal Syndrome

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44Novoseek
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Compounds related to Craniofrontonasal Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine447.3EPHA1, EPHB2, EFNB1, EFNB2, EFNA2, NCK2

GO Terms for genes affiliated with Craniofrontonasal Syndrome

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16Gene Ontology
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Cellular components related to Craniofrontonasal Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:0058878.0EPHA1, EPHB2, EFNB1, EFNB2, EDA

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

idNameGO IDScoreTop Affiliating Genes
1peptidyl-tyrosine phosphorylationGO:0181089.5EPHA1, EPHB2
2positive regulation of T cell proliferationGO:0421029.4EFNB1, NCK2
3axon guidanceGO:0074119.0EPHB2, EFNB1, NCK2, OPHN1
4ephrin receptor signaling pathwayGO:0480138.9EPHB2, EFNB2, EFNA2
5nervous system developmentGO:0073998.9EPHB2, EFNB2, OPHN1
6cell-cell signalingGO:0072678.8EFNA2, EFNB2, EFNB1

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

idNameGO IDScoreTop Affiliating Genes
1transmembrane-ephrin receptor activityGO:0050059.5EPHA1, EPHB2
2ephrin receptor bindingGO:0468758.5EFNB1, EFNB2, EFNA2

Products for genes affiliated with Craniofrontonasal Syndrome

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Sources for Craniofrontonasal 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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet