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:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 66UMLS, 13DISEASES, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Craniofrontonasal Dysplasia:

Name: Craniofrontonasal Dysplasia 50 11 46 23 52 68 25 12 37 66
Craniofrontonasal Syndrome 50 11 46 23 13 52 68
Cfnd 46 23 52 68
 
Cfns 46 23 52 68
Craniofrontonasal Dysostosis 46 23 68

Characteristics:

Orphanet epidemiological data:

52
craniofrontonasal dysplasia:
Inheritance: X-linked dominant; Age of onset: Neonatal

HPO:

62
craniofrontonasal dysplasia:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM50 304110
Disease Ontology11 DOID:14737
Orphanet52 ORPHA1520
ICD10 via Orphanet29 Q87.1
MESH via Orphanet38 C536456
UMLS via Orphanet67 C0220767
MedGen35 C0220767

Summaries for Craniofrontonasal Dysplasia

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NIH Rare Diseases:46 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 skeleton and limbs/digits/tail.

OMIM:50 Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in... (304110) more...

UniProtKB/Swiss-Prot:68 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.

Wikipedia:69 Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very... more...

Related Diseases for Craniofrontonasal Dysplasia

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Diseases related to Craniofrontonasal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
idRelated DiseaseScoreTop Affiliating Genes
1craniofrontonasal syndrome teebi type11.9
2hypertelorism, teebi type11.2
3frontonasal dysplasia 211.0
4webster deming syndrome11.0
5dysostosis10.3
6congenital diaphragmatic hernia10.1
7frontonasal dysplasia 110.0
8synostosis10.0
9chiari malformation10.0
10parietal foramina with cleidocranial dysplasia9.6ALX1, ALX3
11jensen syndrome7.3ALX1, ALX3, EFNB1, EPHA1, TRIM8, XIST

Graphical network of diseases related to Craniofrontonasal Dysplasia:



Diseases related to craniofrontonasal dysplasia

Symptoms for Craniofrontonasal Dysplasia

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Symptoms by clinical synopsis from OMIM:

304110

Clinical features from OMIM:

304110

Symptoms:

 52 (show all 42)
  • hypospadias
  • shawl scrotum
  • abnormality of the teeth
  • oral cleft
  • high palate
  • brachycephaly
  • microcephaly
  • hypertelorism
  • facial asymmetry
  • widow's peak
  • sensorineural hearing impairment
  • wide nasal bridge
  • depressed nasal ridge
  • thickened nuchal skin fold
  • downslanted palpebral fissures
  • pectus excavatum
  • congenital diaphragmatic hernia
  • abnormality of the clavicle
  • sprengel anomaly
  • brachydactyly syndrome
  • hand polydactyly
  • intellectual disability
  • muscular hypotonia
  • plagiocephaly
  • craniosynostosis
  • sandal gap
  • frontal bossing
  • hypoplasia of the corpus callosum
  • low posterior hairline
  • woolly hair
  • scoliosis
  • midline defect of the nose
  • clinodactyly of the 5th finger
  • joint hyperflexibility
  • finger syndactyly
  • congenital pseudoarthrosis of the clavicle
  • aplasia/hypoplasia of the nipples
  • ridged fingernail
  • broad hallux phalanx
  • abnormality of hair texture
  • camptodactyly of finger
  • down-sloping shoulders

HPO human phenotypes related to Craniofrontonasal Dysplasia:

(show all 81)
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 toenails 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 clavicle 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 umbilical hernia HP:0001537
65 abnormality of the rib cage HP:0001547
66 toe syndactyly HP:0001770
67 ridged nail HP:0001807
68 fragile nails HP:0001808
69 split nail HP:0001809
70 frontal bossing HP:0002007
71 hypoplasia of the corpus callosum HP:0002079
72 low posterior hairline HP:0002162
73 clinodactyly of the 5th finger HP:0004209
74 short stature HP:0004322
75 coronal craniosynostosis HP:0004440
76 hypoplastic nasal tip HP:0005278
77 congenital pseudoarthrosis of the clavicle HP:0006585
78 broad hallux HP:0010055
79 unilateral breast hypoplasia HP:0012813
80 down-sloping shoulders HP:0200021
81 hemihypotrophy of lower limb HP:0200053

UMLS symptoms related to Craniofrontonasal Dysplasia:


joint laxity, grooving of nail

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 Dysplasia25
2 Craniofrontonasal Syndrome23 EFNB1

Anatomical Context for Craniofrontonasal Dysplasia

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MalaCards organs/tissues related to Craniofrontonasal Dysplasia:

34
Eye, Skin, Bone, Breast

Animal Models for Craniofrontonasal Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Craniofrontonasal Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.3ALX1, ALX3, EFNB1, EPHA1
2MP:00053718.0ALX1, ALX3, EFNB1, EPHA1

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:

68 (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)single nucleotide variantPathogenicrs587777109GRCh37Chr X, 68059596: 68059596
2EFNB1NC_000023.11deletionPathogenicGRCh37Chr X, 68059108: 68067502
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

Copy number variations for Craniofrontonasal Dysplasia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
126442706510000067700000Copy 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
1neural crest cell migrationGO:00017559.3ALX1, EFNB1
2ephrin receptor signaling pathwayGO:00480139.2EFNB1, EPHA1
3embryonic skeletal system morphogenesisGO:00487049.2ALX1, ALX3

Sources for Craniofrontonasal Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet