MCID: CRN248
MIFTS: 35

Craniofrontonasal Dysplasia malady

Genetic diseases, Rare diseases, Neuronal diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Craniofrontonasal Dysplasia

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 22GTR, 60UMLS, 20GeneTests, 11DISEASES, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Craniofrontonasal Dysplasia, Aliases & Descriptions:

Name: Craniofrontonasal Dysplasia 45 9 10 41 47 22 60
Craniofrontonasal Syndrome 45 9 41 20 11 47
Cfns 41 47
 
Cfnd 41 47
Craniofrontonasal Dysostosis 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
craniofrontonasal dysplasia:
Inheritance: X-linked dominant; Age of onset: Neonatal


External Ids:

OMIM45 304110
Disease Ontology9 DOID:14737
MeSH33 C536456
Orphanet47 1520
MESH via Orphanet34 C536456
ICD10 via Orphanet26 Q87.1
UMLS via Orphanet61 C0220767

Summaries for Craniofrontonasal Dysplasia

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NIH Rare Diseases:41 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 Dysplasia, also known as craniofrontonasal syndrome, is related to dysostosis and craniofrontonasal syndrome 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). Affiliated tissues include eye, skin and bone.

OMIM:45 Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in... (304110) more...

Wikipedia:63 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 for Craniofrontonasal Dysplasia

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Symptoms by clinical synopsis from OMIM:

304110

Clinical features from OMIM:

304110

Symptoms:

 47 (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 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 Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Craniofrontonasal Dysplasia

Search NIH Clinical Center for Craniofrontonasal Dysplasia

Genetic Tests for Craniofrontonasal Dysplasia

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Genetic tests related to Craniofrontonasal Dysplasia:

id Genetic test Affiliating Genes
1 Craniofrontonasal Syndrome20 EFNB1
2 Craniofrontonasal Dysplasia22

Anatomical Context for Craniofrontonasal Dysplasia

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MalaCards organs/tissues related to Craniofrontonasal Dysplasia:

31
Eye, Skin, Bone, Breast

Animal Models for Craniofrontonasal Dysplasia or affiliated genes

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Publications for Craniofrontonasal Dysplasia

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Articles related to Craniofrontonasal Dysplasia:

idTitleAuthorsYear
1
Frontonasal dysplasia or craniofrontonasal dysplasia and the Poland anomaly? (2225532)
1990

Variations for Craniofrontonasal Dysplasia

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

62 (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:

6 (show all 12)
id Gene Variation 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 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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Compounds for genes affiliated with Craniofrontonasal Dysplasia

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GO Terms for genes affiliated with Craniofrontonasal Dysplasia

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Products for genes affiliated with Craniofrontonasal Dysplasia

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  • Antibodies
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Craniofrontonasal Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet