MCID: CRN248
MIFTS: 48

Craniofrontonasal Dysplasia malady

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

Aliases & Classifications for Craniofrontonasal Dysplasia

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 12DISEASES, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Craniofrontonasal Dysplasia:

Name: Craniofrontonasal Dysplasia 49 10 11 45 22 51 67 36 24 65
Craniofrontonasal Syndrome 10 45 22 12 51 67
Cfns 45 22 51 67
 
Cfnd 45 22 51 67
Craniofrontonasal Dysostosis 45 22 67

Characteristics:

Orphanet epidemiological data:

51
craniofrontonasal dysplasia:
Inheritance: X-linked dominant; Age of onset: Neonatal

HPO:

61
craniofrontonasal dysplasia:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 304110
Disease Ontology10 DOID:14737
Orphanet51 1520
ICD10 via Orphanet28 Q87.1
MESH via Orphanet37 C536456
UMLS via Orphanet66 C0220767
MedGen34 C0220767
UMLS65 C0220767

Summaries for Craniofrontonasal Dysplasia

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NIH Rare Diseases:45 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 brachycephalofrontonasal dysplasia, and has symptoms including abnormality of the toenails, midline defect of the nose and frontal bossing. An important gene associated with Craniofrontonasal Dysplasia is EFNB1 (Ephrin B1), and among its related pathways are EphB-EphrinB Signaling and Axon guidance. Affiliated tissues include eye, skin and breast, and related mouse phenotypes are respiratory system and digestive/alimentary.

OMIM:49 Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in... (304110) more...

UniProtKB/Swiss-Prot:67 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:68 Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very... more...

Related Diseases for Craniofrontonasal Dysplasia

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Graphical network of the top 20 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:

 51 (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 Dysplasia:

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

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 Syndrome22 EFNB1

Anatomical Context for Craniofrontonasal Dysplasia

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MalaCards organs/tissues related to Craniofrontonasal Dysplasia:

33
Eye, Skin, Breast, Bone, Colon, Testes

Animal Models for Craniofrontonasal Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Craniofrontonasal Dysplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.9ALX1, ALX3, EFNB1
2MP:00053818.8ALX1, ALX3, EFNB1
3MP:00053898.6ALX3, EFNB1, EPHA1, OPHN1
4MP:00053828.6ALX1, ALX3, EFNB1
5MP:00053718.3ALX1, ALX3, EFNB1, EPHA1
6MP:00053908.1ALX1, ALX3, EFNB1, EPHA1
7MP:00053787.2ALX1, ALX3, EFNB1, EPHA1, OPHN1

Publications for Craniofrontonasal Dysplasia

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Articles related to Craniofrontonasal Dysplasia:

(show all 20)
idTitleAuthorsYear
1
Pioneering surgery for retinal detachment in Australasia: a review. (27187199)
2016
2
The lipid kinase PI4KIIII^ is highly expressed in breast tumors and activates Akt in cooperation with Rab11a. (24962317)
2014
3
The latent factor structure of acute stress disorder following bank robbery: testing alternative models in light of the pending DSM-5. (23398114)
2013
4
Serum hepcidin is associated with parameters of glucose metabolism in women with gestational diabetes mellitus. (23356500)
2013
5
Associations between cholesterol, colon cancer screening, behavior, and diet. (23985183)
2013
6
Molecular mechanism of pharmacological activation of BK channels. (22331907)
2012
7
Factors affecting the prognosis of Albanian adult patients with generalized tetanus. (22668526)
2012
8
Complex cellular responses of Helicobacter pylori-colonized gastric adenocarcinoma cells. (21402757)
2011
9
RUNX1/AML1 DNA-binding domain and ETO/MTG8 NHR2-dimerization domain are critical to AML1-ETO9a leukemogenesis. (19036704)
2009
10
Progressive immunoglobulin gene mutations in chronic lymphocytic leukemia: evidence for antigen-driven intraclonal diversification. (17082314)
2007
11
Inhibitory effect of curcumin on MDR1 gene expression in patient leukemic cells. (17121181)
2006
12
The role of magnetic resonance cholangiopancreatography (MRCP) in obstructive jaundice. (15129871)
2004
13
Serum uric acid in hypertensive patients with and without peripheral arterial disease. (12732400)
2003
14
Sudden death in children with restrictive cardiomyopathy. (11984040)
2002
15
Interleukin-6 (IL-6) producing phaeochromocytoma: direct IL-6 suppression by non-steroidal anti-inflammatory drugs. (11298095)
2001
16
CAG repeat number correlates with the rate of brainstem and cerebellar atrophy in Machado-Joseph disease. (9748049)
1998
17
Recombinant vaccinia virus expressing PrM and E glycoproteins of louping ill virus: induction of partial homologous and heterologous protection in mice. (7529419)
1994
18
Detection of pS2 messenger RNA in gynecological cancers. (2306733)
1990
19
Identification of fibroblasts responsible for increased collagen production in localized scleroderma by in situ hybridization. (3361141)
1988
20
Benign schwannoma of the phrenic nerve: case report. (112501)
1979

Variations for Craniofrontonasal Dysplasia

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

67 (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 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

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
1
Show member pathways
9.4EFNB1, EPHA1
29.4EFNB1, 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
1embryonic skeletal system morphogenesisGO:00487049.1ALX1, ALX3

Sources for Craniofrontonasal Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet