CFNS
MCID: CRN248
MIFTS: 45

Craniofrontonasal Dysplasia (CFNS) malady

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

Aliases & Classifications for Craniofrontonasal Dysplasia

Aliases & Descriptions for Craniofrontonasal Dysplasia:

Name: Craniofrontonasal Dysplasia 54 12 50 24 56 66 29 13 42 69
Craniofrontonasal Syndrome 54 12 50 24 56 66 14
Cfnd 50 24 56 66
Cfns 50 24 56 66
Craniofrontonasal Dysostosis 50 24 66

Characteristics:

Orphanet epidemiological data:

56
craniofrontonasal dysplasia
Inheritance: X-linked dominant; Age of onset: Neonatal;

HPO:

32
craniofrontonasal dysplasia:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 54 304110
Disease Ontology 12 DOID:14737
Orphanet 56 ORPHA1520
ICD10 via Orphanet 34 Q87.1
MESH via Orphanet 43 C536456
UMLS via Orphanet 70 C0220767
MedGen 40 C0220767
UMLS 69 C0220767

Summaries for Craniofrontonasal Dysplasia

NIH Rare Diseases : 50 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, pectus excavatum and frontal bossing. An important gene associated with Craniofrontonasal Dysplasia is EFNB1 (Ephrin B1), and among its related pathways/superpathways are Axon guidance and Tyrosine Kinases / Adaptors. Affiliated tissues include eye, bone and skin, and related phenotypes are limbs/digits/tail and skeleton

UniProtKB/Swiss-Prot : 66 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 : 54 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

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

(show all 12)
id Related Disease Score Top Affiliating Genes
1 craniofrontonasal syndrome teebi type 11.8
2 hypertelorism, teebi type 11.0
3 frontonasal dysplasia with alopecia and genital anomaly 10.9
4 webster deming syndrome 10.9
5 frontonasal dysplasia 2 10.9
6 frontonasal dysplasia 1 10.9
7 dysostosis 10.2
8 night blindness, congenital stationary , 1b, autosomal recessive 9.9 ALX1 ALX3
9 congenital diaphragmatic hernia 9.9
10 chiari malformation 9.9
11 synostosis 9.9
12 jensen syndrome 8.9 ALX1 ALX3 EFNB1 EPHA1 TRIM8 XIST

Graphical network of the top 20 diseases related to Craniofrontonasal Dysplasia:



Diseases related to Craniofrontonasal Dysplasia

Symptoms & Phenotypes for Craniofrontonasal Dysplasia

Symptoms by clinical synopsis from OMIM:

304110

Clinical features from OMIM:

304110

Human phenotypes related to Craniofrontonasal Dysplasia:

56 32 (show top 50) (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
2 pectus excavatum 56 32 Occasional (29-5%) HP:0000767
3 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
4 finger syndactyly 56 32 Frequent (79-30%) HP:0006101
5 high palate 56 32 Frequent (79-30%) HP:0000218
6 intellectual disability 56 32 Frequent (79-30%) HP:0001249
7 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
8 scoliosis 56 32 Frequent (79-30%) HP:0002650
9 abnormality of the teeth 56 32 Frequent (79-30%) HP:0000164
10 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
11 microcephaly 56 32 Frequent (79-30%) HP:0000252
12 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
13 broad hallux phalanx 56 32 Frequent (79-30%) HP:0010059
14 brachycephaly 56 32 Very frequent (99-80%) HP:0000248
15 joint hyperflexibility 56 32 Frequent (79-30%) HP:0005692
16 low posterior hairline 56 32 Frequent (79-30%) HP:0002162
17 aplasia/hypoplasia of the nipples 56 32 Occasional (29-5%) HP:0006709
18 thickened nuchal skin fold 56 32 Frequent (79-30%) HP:0000474
19 sprengel anomaly 56 32 Frequent (79-30%) HP:0000912
20 depressed nasal ridge 56 32 Very frequent (99-80%) HP:0000457
21 hypospadias 56 32 Occasional (29-5%) HP:0000047
22 clinodactyly of the 5th finger 56 32 Frequent (79-30%) HP:0004209
23 downslanted palpebral fissures 56 32 Frequent (79-30%) HP:0000494
24 brachydactyly syndrome 56 32 Frequent (79-30%) HP:0001156
25 sandal gap 56 32 Frequent (79-30%) HP:0001852
26 hand polydactyly 56 32 Frequent (79-30%) HP:0001161
27 down-sloping shoulders 56 32 Frequent (79-30%) HP:0200021
28 craniosynostosis 56 32 Very frequent (99-80%) HP:0001363
29 camptodactyly of finger 56 32 Frequent (79-30%) HP:0100490
30 facial asymmetry 56 32 Frequent (79-30%) HP:0000324
31 plagiocephaly 56 32 Frequent (79-30%) HP:0001357
32 woolly hair 56 32 Frequent (79-30%) HP:0002224
33 oral cleft 56 32 Frequent (79-30%) HP:0000202
34 congenital diaphragmatic hernia 56 32 Occasional (29-5%) HP:0000776
35 hypoplasia of the corpus callosum 56 32 Occasional (29-5%) HP:0002079
36 ridged fingernail 56 32 Very frequent (99-80%) HP:0008402
37 shawl scrotum 56 32 Occasional (29-5%) HP:0000049
38 midline defect of the nose 56 32 Very frequent (99-80%) HP:0004122
39 widow's peak 56 32 Frequent (79-30%) HP:0000349
40 congenital pseudoarthrosis of the clavicle 56 32 Frequent (79-30%) HP:0006585
41 joint laxity 32 HP:0001388
42 short neck 32 HP:0000470
43 nystagmus 32 HP:0000639
44 global developmental delay 32 HP:0001263
45 umbilical hernia 32 HP:0001537
46 short stature 32 HP:0004322
47 cleft palate 32 HP:0000175
48 cryptorchidism 32 HP:0000028
49 telecanthus 32 HP:0000506
50 coronal craniosynostosis 32 HP:0004440

UMLS symptoms related to Craniofrontonasal Dysplasia:


joint laxity, grooving of nail

MGI Mouse Phenotypes related to Craniofrontonasal Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.26 ALX1 ALX3 EFNB1 EPHA1
2 skeleton MP:0005390 8.92 ALX1 ALX3 EFNB1 EPHA1

Drugs & Therapeutics for Craniofrontonasal Dysplasia

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846

Search NIH Clinical Center for Craniofrontonasal Dysplasia

Cochrane evidence based reviews: craniofrontonasal dysplasia

Genetic Tests for Craniofrontonasal Dysplasia

Genetic tests related to Craniofrontonasal Dysplasia:

id Genetic test Affiliating Genes
1 Craniofrontonasal Dysplasia 29
2 Craniofrontonasal Syndrome 24 EFNB1

Anatomical Context for Craniofrontonasal Dysplasia

MalaCards organs/tissues related to Craniofrontonasal Dysplasia:

39
Eye, Bone, Skin, Breast

Publications for Craniofrontonasal Dysplasia

Articles related to Craniofrontonasal Dysplasia:

(show all 20)
id Title Authors Year
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
Craniofrontonasal dysplasia: a surgical treatment algorithm. ( 18090758 )
2007
5
Visual manifestations of craniofrontonasal dysplasia. ( 17694832 )
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. ( 3346887 )
1988
16
Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations. ( 3283635 )
1988
17
New autosomal dominant syndrome resembling craniofrontonasal dysplasia. ( 3425628 )
1987
18
Craniofrontonasal dysplasia. ( 3585934 )
1987
19
A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently. ( 3742859 )
1986
20
Craniofrontonasal dysplasia: clinical and genetic analysis. ( 3742856 )
1986

Variations for Craniofrontonasal Dysplasia

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

66 (show all 19)
id Symbol AA change Variation ID SNP ID
1 EFNB1 p.Pro27Arg VAR_023127
2 EFNB1 p.Pro54Leu VAR_023128 rs104894801
3 EFNB1 p.Ile62Thr VAR_023129
4 EFNB1 p.Leu98Ser VAR_023130
5 EFNB1 p.Thr111Ile VAR_023131 rs104894796
6 EFNB1 p.Gln115Pro VAR_023132
7 EFNB1 p.Pro119His VAR_023133
8 EFNB1 p.Pro119Ser VAR_023134
9 EFNB1 p.Pro119Thr VAR_023135
10 EFNB1 p.Thr137Ala VAR_023136
11 EFNB1 p.Ser138Phe VAR_023137
12 EFNB1 p.Gly151Ser VAR_023138 rs28936069
13 EFNB1 p.Gly151Val VAR_023139 rs28936070
14 EFNB1 p.Cys153Ser VAR_023140
15 EFNB1 p.Cys153Tyr VAR_023141
16 EFNB1 p.Thr155Pro VAR_023143
17 EFNB1 p.Met158Ile VAR_023144 rs28935170
18 EFNB1 p.Met158Val VAR_023145 rs28936071
19 EFNB1 p.Ser182Arg VAR_023146

ClinVar genetic disease variations for Craniofrontonasal Dysplasia:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 EFNB1 EFNB1, EX2-5DEL deletion Pathogenic
2 EFNB1 NM_004429.4(EFNB1): c.332C> T (p.Thr111Ile) single nucleotide variant Pathogenic rs104894796 GRCh37 Chromosome X, 68058663: 68058663
3 EFNB1 NM_004429.4(EFNB1): c.161C> T (p.Pro54Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104894801 GRCh37 Chromosome X, 68058492: 68058492
4 EFNB1 NM_004429.4(EFNB1): c.451G> A (p.Gly151Ser) single nucleotide variant Pathogenic rs28936069 GRCh37 Chromosome X, 68059551: 68059551
5 EFNB1 NM_004429.4(EFNB1): c.452G> T (p.Gly151Val) single nucleotide variant Pathogenic rs28936070 GRCh37 Chromosome X, 68059552: 68059552
6 EFNB1 NM_004429.4(EFNB1): c.472A> G (p.Met158Val) single nucleotide variant Pathogenic rs28936071 GRCh37 Chromosome X, 68059572: 68059572
7 EFNB1 NM_004429.4(EFNB1): c.474G> T (p.Met158Ile) single nucleotide variant Pathogenic rs28935170 GRCh37 Chromosome X, 68059574: 68059574
8 EFNB1 NM_004429.4(EFNB1): c.109T> G (p.Trp37Gly) single nucleotide variant Pathogenic rs104894802 GRCh37 Chromosome X, 68049728: 68049728
9 EFNB1 NM_004429.4(EFNB1): c.110G> A (p.Trp37Ter) single nucleotide variant Pathogenic rs104894803 GRCh37 Chromosome X, 68049729: 68049729
10 EFNB1 NM_004429.4(EFNB1): c.196C> T (p.Arg66Ter) single nucleotide variant Pathogenic rs104894804 GRCh37 Chromosome X, 68058527: 68058527
11 EFNB1 NM_004429.4(EFNB1): c.496C> T (p.Gln166Ter) single nucleotide variant Pathogenic rs587777109 GRCh37 Chromosome X, 68059596: 68059596
12 EFNB1 NC_000023.11 deletion Pathogenic GRCh37 Chromosome X, 68059108: 68067502
13 EFNB1 NM_004429.4(EFNB1): c.407C> T (p.Ser136Leu) single nucleotide variant Likely pathogenic rs1057519033 GRCh37 Chromosome X, 68059507: 68059507
14 EFNB1 NM_004429.4(EFNB1): c.466C> T (p.Arg156Cys) single nucleotide variant Likely pathogenic rs1057519034 GRCh38 Chromosome X, 68839723: 68839723
15 EFNB1 NM_004429.4(EFNB1): c.561delC (p.Asn187Lysfs) deletion Pathogenic rs1057519035 GRCh37 Chromosome X, 68059864: 68059864

Copy number variations for Craniofrontonasal Dysplasia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 264427 X 65100000 67700000 Copy number EFNB1 Craniofrontonasal syndrome

Expression for Craniofrontonasal Dysplasia

Search GEO for disease gene expression data for Craniofrontonasal Dysplasia.

Pathways for Craniofrontonasal Dysplasia

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

id Super pathways Score Top Affiliating Genes
1 11.2 EFNB1 EPHA1
2 10.78 EFNB1 EPHA1

GO Terms for Craniofrontonasal Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 ephrin receptor signaling pathway GO:0048013 9.16 EFNB1 EPHA1
2 embryonic skeletal system morphogenesis GO:0048704 8.96 ALX1 ALX3
3 neural crest cell migration GO:0001755 8.62 ALX1 EFNB1

Sources for Craniofrontonasal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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