MCID: CRN248
MIFTS: 45

Craniofrontonasal Dysplasia malady

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

Aliases & Classifications for Craniofrontonasal Dysplasia

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Craniofrontonasal Dysplasia:

Name: Craniofrontonasal Dysplasia 52 11 48 24 54 70 27 12 39 68
Craniofrontonasal Syndrome 52 11 48 24 54 70 13
Cfns 48 24 54 70
 
Cfnd 48 24 54 70
Craniofrontonasal Dysostosis 48 24 70

Characteristics:

Orphanet epidemiological data:

54
craniofrontonasal dysplasia:
Inheritance: X-linked dominant; Age of onset: Neonatal

HPO:

64
craniofrontonasal dysplasia:
Inheritance: x-linked dominant inheritance

Classifications:



External Ids:

OMIM52 304110
Disease Ontology11 DOID:14737
Orphanet54 ORPHA1520
ICD10 via Orphanet31 Q87.1
MESH via Orphanet40 C536456
UMLS via Orphanet69 C0220767
MedGen37 C0220767

Summaries for Craniofrontonasal Dysplasia

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NIH Rare Diseases:48 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). Females affected with this condition generally have more symptoms than affected males.  Treatment may include surgery to correct the shape of the skull or to adjust the facial features associated with this condition. Last updated: 9/23/2015

MalaCards based summary: Craniofrontonasal Dysplasia, also known as craniofrontonasal syndrome, is related to craniofrontonasal syndrome teebi type and hypertelorism, teebi type, and has symptoms including hypertelorism, depressed nasal ridge and abnormality of the fingernails. An important gene associated with Craniofrontonasal Dysplasia is EFNB1 (Ephrin B1), and among its related pathways is Axon guidance. Affiliated tissues include eye, skin and bone, and related mouse phenotypes are limbs/digits/tail and skeleton.

UniProtKB/Swiss-Prot:70 Craniofrontonasal syndrome: X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies.

OMIM:52 Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in... (304110) more...

Wikipedia:71 Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very... more...

Related Diseases for Craniofrontonasal Dysplasia

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Graphical network of diseases related to Craniofrontonasal Dysplasia:



Diseases related to craniofrontonasal dysplasia

Symptoms & Phenotypes for Craniofrontonasal Dysplasia

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Symptoms by clinical synopsis from OMIM:

304110

Clinical features from OMIM:

304110

Human phenotypes related to Craniofrontonasal Dysplasia:

 64 54 (show all 75)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism64 54 hallmark (90%) Very frequent (99-80%) HP:0000316
2 depressed nasal ridge64 54 hallmark (90%) Very frequent (99-80%) HP:0000457
3 abnormality of the fingernails64 hallmark (90%) HP:0001231
4 craniosynostosis64 54 hallmark (90%) Very frequent (99-80%) HP:0001363
5 frontal bossing64 54 hallmark (90%) Very frequent (99-80%) HP:0002007
6 midline defect of the nose64 54 hallmark (90%) Very frequent (99-80%) HP:0004122
7 abnormality of the toenails64 hallmark (90%) HP:0008388
8 abnormality of the teeth64 54 typical (50%) Frequent (79-30%) HP:0000164
9 abnormality of the palate64 typical (50%) HP:0000174
10 oral cleft64 54 typical (50%) Frequent (79-30%) HP:0000202
11 microcephaly64 54 typical (50%) Frequent (79-30%) HP:0000252
12 facial asymmetry64 54 typical (50%) Frequent (79-30%) HP:0000324
13 sensorineural hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000407
14 thickened nuchal skin fold64 54 typical (50%) Frequent (79-30%) HP:0000474
15 downslanted palpebral fissures64 54 typical (50%) Frequent (79-30%) HP:0000494
16 abnormality of the clavicle64 54 typical (50%) Frequent (79-30%) HP:0000889
17 sprengel anomaly64 54 typical (50%) Frequent (79-30%) HP:0000912
18 brachydactyly syndrome64 54 typical (50%) Frequent (79-30%) HP:0001156
19 hand polydactyly64 54 typical (50%) Frequent (79-30%) HP:0001161
20 muscular hypotonia64 54 typical (50%) Frequent (79-30%) HP:0001252
21 plagiocephaly64 54 typical (50%) Frequent (79-30%) HP:0001357
22 joint hypermobility64 typical (50%) HP:0001382
23 preaxial foot polydactyly64 typical (50%) HP:0001841
24 sandal gap64 54 typical (50%) Frequent (79-30%) HP:0001852
25 low posterior hairline64 54 typical (50%) Frequent (79-30%) HP:0002162
26 woolly hair64 54 typical (50%) Frequent (79-30%) HP:0002224
27 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
28 abnormality of the shoulder64 typical (50%) HP:0003043
29 clinodactyly of the 5th finger64 54 typical (50%) Frequent (79-30%) HP:0004209
30 finger syndactyly64 54 typical (50%) Frequent (79-30%) HP:0006101
31 high anterior hairline64 typical (50%) HP:0009890
32 camptodactyly of finger64 54 typical (50%) Frequent (79-30%) HP:0100490
33 cognitive impairment64 typical (50%) HP:0100543
34 shawl scrotum64 54 occasional (7.5%) Occasional (29-5%) HP:0000049
35 pectus excavatum64 54 occasional (7.5%) Occasional (29-5%) HP:0000767
36 congenital diaphragmatic hernia64 54 occasional (7.5%) Occasional (29-5%) HP:0000776
37 aplasia/hypoplasia of the nipples64 54 occasional (7.5%) Occasional (29-5%) HP:0006709
38 aplasia/hypoplasia of the corpus callosum64 occasional (7.5%) HP:0007370
39 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
40 cryptorchidism64 HP:0000028
41 hypospadias64 54 Occasional (29-5%) HP:0000047
42 cleft palate64 HP:0000175
43 cleft upper lip64 HP:0000204
44 brachycephaly64 54 Very frequent (99-80%) HP:0000248
45 widow's peak64 54 Frequent (79-30%) HP:0000349
46 wide nasal bridge64 54 Very frequent (99-80%) HP:0000431
47 bifid nasal tip64 HP:0000456
48 short neck64 HP:0000470
49 telecanthus64 HP:0000506
50 exotropia64 HP:0000577
51 nystagmus64 HP:0000639
52 axillary pterygia64 HP:0001060
53 global developmental delay64 HP:0001263
54 joint laxity64 HP:0001388
55 umbilical hernia64 HP:0001537
56 abnormality of the rib cage64 HP:0001547
57 toe syndactyly64 HP:0001770
58 ridged nail64 HP:0001807
59 fragile nails64 HP:0001808
60 split nail64 HP:0001809
61 hypoplasia of the corpus callosum64 54 Occasional (29-5%) HP:0002079
62 short stature64 HP:0004322
63 coronal craniosynostosis64 HP:0004440
64 hypoplastic nasal tip64 HP:0005278
65 congenital pseudoarthrosis of the clavicle64 54 Frequent (79-30%) HP:0006585
66 broad hallux64 HP:0010055
67 unilateral breast hypoplasia64 HP:0012813
68 down-sloping shoulders64 54 Frequent (79-30%) HP:0200021
69 hemihypotrophy of lower limb64 HP:0200053
70 high palate54 Frequent (79-30%)
71 intellectual disability54 Frequent (79-30%)
72 joint hyperflexibility54 Frequent (79-30%)
73 ridged fingernail54 Very frequent (99-80%)
74 broad hallux phalanx54 Frequent (79-30%)
75 abnormality of hair texture54 Frequent (79-30%)

UMLS symptoms related to Craniofrontonasal Dysplasia:


joint laxity, grooving of nail

MGI Mouse Phenotypes related to Craniofrontonasal Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0ALX1, ALX3, EFNB1, EPHA1
2MP:00053908.3ALX1, ALX3, EFNB1, EPHA1

Drugs & Therapeutics for Craniofrontonasal Dysplasia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Analysis of Craniofrontonasal SyndromeCompletedNCT00339846

Search NIH Clinical Center for Craniofrontonasal Dysplasia


Cochrane evidence based reviews: craniofrontonasal dysplasia

Genetic Tests for Craniofrontonasal Dysplasia

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Genetic tests related to Craniofrontonasal Dysplasia:

id Genetic test Affiliating Genes
1 Craniofrontonasal Dysplasia27
2 Craniofrontonasal Syndrome24 EFNB1

Anatomical Context for Craniofrontonasal Dysplasia

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MalaCards organs/tissues related to Craniofrontonasal Dysplasia:

36
Eye, Skin, Bone, Breast

Publications for Craniofrontonasal Dysplasia

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Articles related to Craniofrontonasal Dysplasia:

(show all 20)
idTitleAuthorsYear
1
Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation. (26180728)
2015
2
Craniofrontonasal dysplasia: variability of the frontonasal suture and implications for treatment. (23851793)
2013
3
Craniofrontonasal dysplasia associated with Chiari malformation. (20367343)
2010
4
Visual manifestations of craniofrontonasal dysplasia. (17694832)
2007
5
Craniofrontonasal dysplasia: a surgical treatment algorithm. (18090758)
2007
6
Further evidence from two families that craniofrontonasal dysplasia maps to Xp22. (10450866)
1999
7
Craniofrontonasal dysplasia. (9509720)
1998
8
Craniofrontonasal dysplasia. (9176000)
1997
9
Craniofrontonasal dysplasia: more severe expression in the mother than in her son. (8775424)
1995
10
Frontonasal and craniofrontonasal dysplasia: preoperative quantitative description of the cranio-orbito-zygomatic region based on computed and conventional tomography. (8186226)
1994
11
Craniofrontonasal dysplasia in two male sibs. (8305967)
1993
12
Craniofrontonasal dysplasia. (1468459)
1992
13
Experience of surgical treatment for craniofrontonasal dysplasia. (1746014)
1991
14
Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly? (2225532)
1990
15
Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations. (3283635)
1988
16
Craniofrontonasal dysplasia. (3346887)
1988
17
Craniofrontonasal dysplasia. (3585934)
1987
18
New autosomal dominant syndrome resembling craniofrontonasal dysplasia. (3425628)
1987
19
Craniofrontonasal dysplasia: clinical and genetic analysis. (3742856)
1986
20
A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently. (3742859)
1986

Variations for Craniofrontonasal Dysplasia

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

70 (show all 19)
id Symbol AA change Variation ID SNP ID
1EFNB1p.Pro27ArgVAR_023127
2EFNB1p.Pro54LeuVAR_023128rs104894801
3EFNB1p.Ile62ThrVAR_023129
4EFNB1p.Leu98SerVAR_023130
5EFNB1p.Thr111IleVAR_023131rs104894796
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 Dysplasia:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1EFNB1NM_004429.4(EFNB1): c.496C> T (p.Gln166Ter)SNVPathogenicrs587777109GRCh37Chr X, 68059596: 68059596
2EFNB1NC_000023.11deletionPathogenicGRCh37Chr X, 68059108: 68067502
3EFNB1EFNB1, EX2-5DELdeletionPathogenicChr na, -1: -1
4EFNB1NM_004429.4(EFNB1): c.332C> T (p.Thr111Ile)SNVPathogenicrs104894796GRCh37Chr X, 68058663: 68058663
5EFNB1NM_004429.4(EFNB1): c.161C> T (p.Pro54Leu)SNVPathogenicrs104894801GRCh37Chr X, 68058492: 68058492
6EFNB1NM_004429.4(EFNB1): c.451G> A (p.Gly151Ser)SNVPathogenicrs28936069GRCh37Chr X, 68059551: 68059551
7EFNB1NM_004429.4(EFNB1): c.452G> T (p.Gly151Val)SNVPathogenicrs28936070GRCh37Chr X, 68059552: 68059552
8EFNB1NM_004429.4(EFNB1): c.472A> G (p.Met158Val)SNVPathogenicrs28936071GRCh37Chr X, 68059572: 68059572
9EFNB1NM_004429.4(EFNB1): c.474G> T (p.Met158Ile)SNVPathogenicrs28935170GRCh37Chr X, 68059574: 68059574
10EFNB1NM_004429.4(EFNB1): c.109T> G (p.Trp37Gly)SNVPathogenicrs104894802GRCh37Chr X, 68049728: 68049728
11EFNB1NM_004429.4(EFNB1): c.110G> A (p.Trp37Ter)SNVPathogenicrs104894803GRCh37Chr X, 68049729: 68049729
12EFNB1NM_004429.4(EFNB1): c.196C> T (p.Arg66Ter)SNVPathogenicrs104894804GRCh37Chr X, 68058527: 68058527

Copy number variations for Craniofrontonasal Dysplasia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1264427X6510000067700000Copy numberEFNB1Craniofrontonasal syndrome

Expression for genes affiliated with Craniofrontonasal Dysplasia

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Search GEO for disease gene expression data for Craniofrontonasal Dysplasia.

Pathways for genes affiliated with Craniofrontonasal Dysplasia

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Pathways related to Craniofrontonasal Dysplasia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5EFNB1, EPHA1

GO Terms for genes affiliated with Craniofrontonasal Dysplasia

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Biological processes related to Craniofrontonasal Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ephrin receptor signaling pathwayGO:004801310.0EFNB1, EPHA1
2embryonic skeletal system morphogenesisGO:00487049.8ALX1, ALX3
3neural crest cell migrationGO:00017559.2ALX1, EFNB1

Sources for Craniofrontonasal Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet