CFND
MCID: CRN005
MIFTS: 56

Craniofrontonasal Syndrome (CFND) malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases categories
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Summaries for Craniofrontonasal Syndrome

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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 based summary: Craniofrontonasal Syndrome, also known as craniofrontonasal dysplasia, is related to dysostosis and brachycephalofrontonasal dysplasia, and has symptoms including craniostenosis/craniosynostosis/sutural synostosis, brachycephaly/flat occiput and frontal bossing/prominent forehead. 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:65 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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Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 10DISEASES, 48Orphanet, 9diseasecard, 22GTR, 46OMIM, 62UMLS, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Craniofrontonasal Syndrome, Aliases & Descriptions:

Name: Craniofrontonasal Syndrome 8 42 20 10 48
Craniofrontonasal Dysplasia 8 9 42 22 46 48 62
Craniofrontonasal Dysostosis 42 62
 
Cfns 42 48
Cfnd 42 48


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:14737
OMIM46 304110
MeSH34 C536456
MESH via Orphanet35 C536456
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet63 C0220767

Related Diseases for Craniofrontonasal Syndrome

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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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Symptoms by clinical synopsis from OMIM:

304110

Clinical features from OMIM:

304110

Symptoms:

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

HPO human phenotypes related to Craniofrontonasal Syndrome:

(show all 82)
id Description Frequency HPO Source Accession
1 hypertelorism hallmark (90%) HP:0000316
2 depressed nasal ridge hallmark (90%) HP:0000457
3 abnormality of the fingernails hallmark (90%) HP:0001231
4 craniosynostosis hallmark (90%) HP:0001363
5 frontal bossing hallmark (90%) HP:0002007
6 midline defect of the nose hallmark (90%) HP:0004122
7 abnormality of the toenail hallmark (90%) HP:0008388
8 abnormality of the teeth typical (50%) HP:0000164
9 abnormality of the palate typical (50%) HP:0000174
10 oral cleft typical (50%) HP:0000202
11 microcephaly typical (50%) HP:0000252
12 facial asymmetry typical (50%) HP:0000324
13 sensorineural hearing impairment typical (50%) HP:0000407
14 thickened nuchal skin fold typical (50%) HP:0000474
15 downslanted palpebral fissures typical (50%) HP:0000494
16 abnormality of the clavicles typical (50%) HP:0000889
17 sprengel anomaly typical (50%) HP:0000912
18 brachydactyly syndrome typical (50%) HP:0001156
19 hand polydactyly typical (50%) HP:0001161
20 muscular hypotonia typical (50%) HP:0001252
21 plagiocephaly typical (50%) HP:0001357
22 joint hypermobility typical (50%) HP:0001382
23 preaxial foot polydactyly typical (50%) HP:0001841
24 sandal gap typical (50%) HP:0001852
25 low posterior hairline typical (50%) HP:0002162
26 woolly hair typical (50%) HP:0002224
27 scoliosis typical (50%) HP:0002650
28 abnormality of the shoulder typical (50%) HP:0003043
29 clinodactyly of the 5th finger typical (50%) HP:0004209
30 finger syndactyly typical (50%) HP:0006101
31 high anterior hairline typical (50%) HP:0009890
32 camptodactyly of finger typical (50%) HP:0100490
33 cognitive impairment typical (50%) HP:0100543
34 shawl scrotum occasional (7.5%) HP:0000049
35 pectus excavatum occasional (7.5%) HP:0000767
36 congenital diaphragmatic hernia occasional (7.5%) HP:0000776
37 aplasia/hypoplasia of the nipples occasional (7.5%) HP:0006709
38 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
39 displacement of the external urethral meatus occasional (7.5%) HP:0100627
40 cryptorchidism HP:0000028
41 hypospadias HP:0000047
42 shawl scrotum HP:0000049
43 cleft palate HP:0000175
44 cleft upper lip HP:0000204
45 brachycephaly HP:0000248
46 hypertelorism HP:0000316
47 facial asymmetry HP:0000324
48 widow's peak HP:0000349
49 wide nasal bridge HP:0000431
50 bifid nasal tip HP:0000456
51 short neck HP:0000470
52 downslanted palpebral fissures HP:0000494
53 telecanthus HP:0000506
54 exotropia HP:0000577
55 nystagmus HP:0000639
56 pectus excavatum HP:0000767
57 congenital diaphragmatic hernia HP:0000776
58 sprengel anomaly HP:0000912
59 axillary pterygia HP:0001060
60 brachydactyly syndrome HP:0001156
61 muscular hypotonia HP:0001252
62 global developmental delay HP:0001263
63 joint laxity HP:0001388
64 x-linked dominant inheritance HP:0001423
65 umbilical hernia HP:0001537
66 abnormality of the rib cage HP:0001547
67 toe syndactyly HP:0001770
68 ridged nail HP:0001807
69 fragile nails HP:0001808
70 split nail HP:0001809
71 frontal bossing HP:0002007
72 hypoplasia of the corpus callosum HP:0002079
73 low posterior hairline HP:0002162
74 clinodactyly of the 5th finger HP:0004209
75 short stature HP:0004322
76 coronal craniosynostosis HP:0004440
77 hypoplastic nasal tip HP:0005278
78 congenital pseudarthrosis of the clavicle HP:0006585
79 broad hallux HP:0010055
80 unilateral breast hypoplasia HP:0012813
81 down-sloping shoulders HP:0200021
82 hemihypotrophy of lower limb HP:0200053

Drugs & Therapeutics for Craniofrontonasal Syndrome

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Drug clinical trials:

Search ClinicalTrials for Craniofrontonasal Syndrome

Search NIH Clinical Center for Craniofrontonasal Syndrome

Genetic Tests for Craniofrontonasal Syndrome

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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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MalaCards organs/tissues related to Craniofrontonasal Syndrome:

32
Eye, Bone, Skin

Animal Models for Craniofrontonasal Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Craniofrontonasal Syndrome:

36 (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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Articles related to Craniofrontonasal Syndrome:

(show all 29)
idTitleAuthorsYear
1
Cortical abnormalities and non-spatial learning deficits in a mouse model of CranioFrontoNasal syndrome. (24520368)
2014
2
Craniofrontonasal Syndrome: Atrial Septal Defect With a Novel EFNB1 Gene Mutation. (24919122)
2014
3
A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome. (23509643)
2013
4
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. (23335590)
2013
5
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1. (24281372)
2013
6
Anomalous ovarian morphology in a patient with craniofrontonasal syndrome. (23550873)
2013
7
A novel EFNB1 mutation in a patient with craniofrontonasal syndrome and right hallux duplication. (23845783)
2013
8
Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox. (23614707)
2013
9
A Novel de Novo Mutation Within EFNB1 Gene in a Young Girl With Craniofrontonasal Syndrome. (21385071)
2012
10
Diverse clinical and genetic aspects of craniofrontonasal syndrome. (21215906)
2011
11
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. (20734337)
2010
12
Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome. (18386322)
2008
13
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. (18043713)
2008
14
Gene symbol: EFNB1. Disease: Craniofrontonasal syndrome. (18386327)
2008
15
Additional EFNB1 mutations in craniofrontonasal syndrome. (18627045)
2008
16
EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome. (17300690)
2007
17
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. (17941886)
2007
18
A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome. (16526919)
2006
19
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. (16685650)
2006
20
Inhibition of gap junction communication at ectopic Eph/ephrin boundaries underlies craniofrontonasal syndrome. (16968134)
2006
21
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. (16639408)
2006
22
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). (15959873)
2005
23
Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox. (16143553)
2005
24
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. (15166289)
2004
25
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. (15124102)
2004
26
Congenital diaphragmatic hernia in a female patient with craniofrontonasal syndrome. (12002152)
2002
27
Craniofrontonasal syndrome and diaphragmatic hernia. (12116215)
2002
28
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. (9302274)
1997
29
Craniofrontonasal syndrome: study of 41 patients. (8669441)
1996

Variations for Craniofrontonasal Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Craniofrontonasal Syndrome:

64 (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:

6 (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_000023.11deletionPathogenicGRCh37Chr 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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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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Pathways related to Craniofrontonasal Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6STARD8, OPHN1
29.3EFNB1, EFNB2
39.3EFNB2, EFNB1
4
Show member pathways
Neurophysiological process Receptor mediated axon growth repulsion60
Pathogenic Escherichia coli infection37
9.3NCK2, EFNA2
59.3NCK2, EFNA2
68.4NCK2, EFNB1, EFNB2, EPHB2
7
Show member pathways
Cytoskeleton remodeling Reverse signaling by ephrin B60
7.8NCK2, EPHB2, EFNB2, EFNA2, EFNB1
8
Show member pathways
Cell adhesion Ephrins signaling60
MAP kinase cascade37
EphrinB-EPHB pathway37
7.8EFNB1, EFNA2, EFNB2, EPHB2, NCK2
97.8EFNB1, EFNA2, EFNB2, EPHB2, NCK2

Compounds for genes affiliated with Craniofrontonasal Syndrome

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

idCompoundScoreTop Affiliating Genes
1tyrosine447.8NCK2, EPHB2, EFNB2, EFNA2, EFNB1

GO Terms for genes affiliated with Craniofrontonasal Syndrome

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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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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