CFNS
MCID: CRN005
MIFTS: 57

Craniofrontonasal Syndrome (CFNS)

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

Aliases & Classifications for Craniofrontonasal Syndrome

MalaCards integrated aliases for Craniofrontonasal Syndrome:

Name: Craniofrontonasal Syndrome 57 12 20 43 58 73 36 29 6 15
Craniofrontonasal Dysplasia 57 12 74 20 43 58 73 13 44 71
Cfns 57 12 20 43 58 73
Cfnd 57 12 20 43 58 73
Craniofrontonasal Dysostosis 57 12 20 73
Craniofrontonasal Dysplasia; Cfnd 57
Dysplasia, Craniofrontonasal 39
Craniofrontonasal Dystosis 43

Characteristics:

Orphanet epidemiological data:

58
craniofrontonasal dysplasia
Inheritance: X-linked dominant; Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked dominant

Miscellaneous:
primarily diagnosed in females
expression more severe in females than males, except for mosaic males
possible genetic heterogeneity (linkage to xp22 in some families)


HPO:

31
craniofrontonasal syndrome:
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Craniofrontonasal Syndrome

MedlinePlus Genetics : 43 Craniofrontonasal syndrome is a rare condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. The condition is named for the areas of the body that are typically affected: the skull (cranio-), face (fronto-), and nose (nasal).In people with craniofrontonasal syndrome, the skull bones along the coronal suture, which is the growth line that goes over the head from ear to ear, closes early. These changes can result in an abnormally shaped head and distinctive facial features. The size and shape of facial structures may differ between the right and left sides of the face (facial asymmetry) in individuals with craniofrontonasal syndrome. Affected individuals may also have wide-set eyes (ocular hypertelorism), eyes that do not point in the same direction (strabismus), involuntary eye movements (nystagmus), a slit (cleft) in the tip of the nose, a wide nasal bridge, an upper lip that points outward (called a tented lip), or a cleft in the upper lip with or without a cleft in roof of the mouth (palate). Some affected individuals have brain abnormalities, such as absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). However, intelligence is usually unaffected in people with this condition. Females with craniofrontonasal syndrome typically have more severe signs and symptoms than affected males, who often have hypertelorism and rarely, cleft lip.Other common features of craniofrontonasal syndrome include extra folds of skin on the neck (webbed neck), ridged nails, unusual curving of the fingers or toes (clinodactyly), extra fingers (polydactyly) or fingers that are fused together (syndactyly), low-set breasts, a sunken chest (pectus excavatum), a spine that curves to the side (scoliosis), or narrow and sloped shoulders with reduced range of motion. People with this condition may also have eyebrows that grow together in the middle (synophrys), a widow's peak hairline with a low hairline in the back, or wiry hair.

MalaCards based summary : Craniofrontonasal Syndrome, also known as craniofrontonasal dysplasia, is related to craniosynostosis and synostosis, and has symptoms including grooving of nail An important gene associated with Craniofrontonasal Syndrome is EFNB1 (Ephrin B1), and among its related pathways/superpathways are Developmental Biology and p70S6K Signaling. Affiliated tissues include eye, breast and bone, and related phenotypes are frontal bossing and hypertelorism

Disease Ontology : 12 A syndrome that has material basis in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton.

GARD : 20 Craniofrontonasal dysplasia is a rare genetic condition with several skeletal defects. Main features of this condition include widely spaced eyes (hypertelorism), bifid tip of the nose, broad head (brachycephaly), prominent forehead (frontal bossing), asymmetry of facial features, abnoral form of the eyebrow, and/or crossed eyes (strabismus). Other described features include narrow sloping shoulders, malformed bone of the center of the chest (sternum), malformation of the collarbone (clavicle); backward curvature of the spine (lordosis); and/or abnormal lateral curvature of the spine (scoliosis). Several problems leading to asymmetry of the sides of the body have being described, such as asymmetric lengths of the legs or arms, asymmetric breasts, one shoulder that is higher than the other (Sprengel defomity) and absence of the chest wall muscles or bones in one side of the body with abnormally short, webbed fingers on the hand on the same side (Poland syndrome). 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.

OMIM® : 57 Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004). (304110) (Updated 05-Mar-2021)

KEGG : 36 Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by loss-of-function mutations of EFNB1. CFNS is characterized by body asymmetry, midline defects, skeletal abnormalities, and dermatological abnormalities. It is a very peculiar X-linked syndrome because females are affected whereas male carriers show no or only mild abnormalities.

UniProtKB/Swiss-Prot : 73 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 : 74 Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very... more...

Related Diseases for Craniofrontonasal Syndrome

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

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 craniosynostosis 29.9 EPHA4 EFNB1 EFNA4 ALX4
2 synostosis 29.8 EFNB1 EFNA4 ALX4
3 widow's peak 29.0 ALX4 ALX3 ALX1
4 frontonasal dysplasia 2 11.3
5 frontonasal dysplasia 1 11.1
6 craniofrontonasal dysplasia-poland anomaly syndrome 11.1
7 craniofrontonasal syndrome teebi type 11.1
8 hypertelorism 10.4
9 cleft lip 10.2
10 diaphragmatic hernia, congenital 10.2
11 cleft lip/palate 10.2
12 chromosome 2q35 duplication syndrome 10.1
13 telecanthus 10.1
14 strabismus 10.1
15 mechanical strabismus 10.1
16 plagiocephaly 10.1
17 frem1 autosomal recessive disorders 10.0
18 bifid nose 10.0
19 pectus carinatum 10.0
20 branchiootic syndrome 1 10.0
21 polydactyly 10.0
22 sensorineural hearing loss 10.0
23 nipah virus encephalitis 10.0 EFNB3 EFNB2
24 craniosynostosis 1 9.9
25 mental retardation, fra12a type 9.9
26 syringomyelia, noncommunicating isolated 9.9
27 chondrodysplasia punctata 2, x-linked dominant 9.9
28 aarskog-scott syndrome 9.9
29 ptosis 9.9
30 suppression amblyopia 9.9
31 amblyopia 9.9
32 alternating exotropia 9.9
33 exotropia 9.9
34 anisometropia 9.9
35 syringomyelia 9.9
36 chiari malformation 9.9
37 hypotonia 9.9
38 muenke syndrome 9.9 EFNB1 EFNA4
39 cleft palate, isolated 9.9
40 hypertelorism, teebi type 9.9
41 wolff-parkinson-white syndrome 9.9
42 corpus callosum, agenesis of 9.9
43 alacrima, achalasia, and mental retardation syndrome 9.9
44 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.9
45 umbilical hernia 9.9
46 monocular esotropia 9.9
47 hypospadias 9.9
48 heart septal defect 9.9
49 atrial heart septal defect 9.9
50 dysostosis 9.9

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



Diseases related to Craniofrontonasal Syndrome

Symptoms & Phenotypes for Craniofrontonasal Syndrome

Human phenotypes related to Craniofrontonasal Syndrome:

58 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
5 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
6 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001363
7 ridged fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0008402
8 midline defect of the nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0004122
9 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
10 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
11 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
12 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
13 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
14 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
15 broad hallux phalanx 58 31 frequent (33%) Frequent (79-30%) HP:0010059
16 thickened nuchal skin fold 58 31 frequent (33%) Frequent (79-30%) HP:0000474
17 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
18 sprengel anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000912
19 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
20 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
21 sandal gap 58 31 frequent (33%) Frequent (79-30%) HP:0001852
22 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
23 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
24 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
25 hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001161
26 down-sloping shoulders 58 31 frequent (33%) Frequent (79-30%) HP:0200021
27 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
28 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
29 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
30 woolly hair 58 31 frequent (33%) Frequent (79-30%) HP:0002224
31 oral cleft 58 31 frequent (33%) Frequent (79-30%) HP:0000202
32 widow's peak 58 31 frequent (33%) Frequent (79-30%) HP:0000349
33 congenital pseudoarthrosis of the clavicle 58 31 frequent (33%) Frequent (79-30%) HP:0006585
34 hypotonia 31 frequent (33%) HP:0001252
35 aplasia/hypoplasia of the nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0006709
36 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
37 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
38 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
39 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
40 shawl scrotum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000049
41 agenesis of corpus callosum 31 HP:0001274
42 nystagmus 31 HP:0000639
43 short neck 31 HP:0000470
44 muscular hypotonia 58 Frequent (79-30%)
45 global developmental delay 31 HP:0001263
46 umbilical hernia 31 HP:0001537
47 short stature 31 HP:0004322
48 cleft palate 31 HP:0000175
49 cryptorchidism 31 HP:0000028
50 joint laxity 31 HP:0001388

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Neck:
short neck

Head And Neck Mouth:
cleft palate
cleft lip

Skin Nails Hair Hair:
low posterior hairline
widow's peak
thick, wiry hair (females and mosaic males)

Head And Neck Face:
facial asymmetry
widow's peak
frontal bossing (females and mosaic males)

Head And Neck Nose:
bifid nasal tip
hypoplastic nasal tip
broad nasal root

Skeletal Feet:
syndactyly
broad halluces

Chest Breasts:
unilateral breast hypoplasia

Skin Nails Hair Nails:
brittle nails
grooved nails
longitudinal splitting

Growth Height:
short stature (males)

Head And Neck Teeth:
dental anomalies (mosaic males)

Chest Ribs Sternum Clavicles And Scapulae:
sprengel deformity (females and mosaic males)
pectus excavatum (males)
clavicle pseudoarthrosis (males)

Skeletal Hands:
syndactyly (females and mosaic males)
brachydactyly (males)
fifth finger clinodactyly (females and mosaic males)

Abdomen External Features:
umbilical hernia

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Limbs:
joint laxity
asymmetric lower limb shortness

Genitourinary External Genitalia Male:
hypospadias
shawl scrotum

Skin Nails Hair Skin:
axillary pterygia

Neurologic Central Nervous System:
hypotonia
developmental delay
normal intelligence
hypoplasia or agenesis of corpus callosum

Head And Neck Eyes:
downslanting palpebral fissures
hypertelorism (males and females)
telecanthus (females)
exotropia (females)
nystagmus (females)
more
Chest Diaphragm:
diaphragmatic hernia

Head And Neck Head:
brachycephaly (females and mosaic males)

Chest External Features:
narrow sloping shoulders

Skeletal Skull:
coronal craniosynostosis (females and mosaic males)
increased interorbital distance (males)

Clinical features from OMIM®:

304110 (Updated 05-Mar-2021)

UMLS symptoms related to Craniofrontonasal Syndrome:


grooving of nail

GenomeRNAi Phenotypes related to Craniofrontonasal Syndrome according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.91 NCK2
2 Decreased viability GR00055-A-2 9.91 NCK2
3 Decreased viability GR00055-A-3 9.91 NCK2
4 Decreased viability GR00221-A-1 9.91 EPHA1 EPHA4 EPHB1 EPHB3
5 Decreased viability GR00221-A-2 9.91 EPHA4 EPHB1 EPHB2
6 Decreased viability GR00221-A-3 9.91 EPHA4 EPHB2
7 Decreased viability GR00221-A-4 9.91 EPHA4 EPHB3
8 Decreased viability GR00249-S 9.91 EFNA4 EFNB1 EFNB2 EPHA1 EPHB3 NCK2
9 Decreased viability GR00301-A 9.91 EPHA1
10 Decreased viability GR00342-S-1 9.91 EPHB1 EPHB2 EPHB3
11 Decreased viability GR00342-S-2 9.91 EPHB1
12 Decreased viability GR00342-S-3 9.91 EPHB1
13 Decreased viability GR00381-A-1 9.91 EFNA4 EFNB3
14 Decreased viability GR00381-A-3 9.91 EFNA4
15 Decreased viability GR00386-A-1 9.91 ALX1 ALX4 EFNB1 EFNB2 EPHB2 STARD8
16 Decreased viability GR00402-S-2 9.91 EFNB1 EPHB2 STARD8
17 Decreased substrate adherent cell growth GR00193-A-2 9.13 EPHA1 EPHB1 EPHB2

MGI Mouse Phenotypes related to Craniofrontonasal Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.27 ALX1 ALX3 ALX4 EFNA2 EFNA4 EFNB2
2 cellular MP:0005384 10.13 ALX3 EFNA2 EFNB1 EFNB2 EFNB3 EPHA4
3 growth/size/body region MP:0005378 10.1 ALX1 ALX3 ALX4 EFNB1 EFNB2 EPHA1
4 nervous system MP:0003631 9.97 ALX1 ALX3 ALX4 EFNA2 EFNB1 EFNB2
5 craniofacial MP:0005382 9.95 ALX1 ALX3 ALX4 EFNB1 EFNB2 EPHB2
6 digestive/alimentary MP:0005381 9.91 ALX1 ALX3 ALX4 EFNB1 EFNB2 EPHB2
7 hearing/vestibular/ear MP:0005377 9.73 ALX1 EFNB1 EFNB2 EFNB3 EPHB2 EPHB3
8 reproductive system MP:0005389 9.61 ALX3 EFNB1 EFNB2 EPHA1 EPHA4 EPHB2
9 vision/eye MP:0005391 9.36 ALX1 ALX3 ALX4 EFNA4 EFNB1 EFNB2

Drugs & Therapeutics for Craniofrontonasal Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analysis of Craniofrontonasal Syndrome Completed NCT00339846
2 Multi-center, Prospective, Controlled, Clinical Trial of Wireless CranioFacial Nerve Stimulation (CFNS) for the Treatment of CranioFacial Neuropathic Pain Recruiting NCT02729480

Search NIH Clinical Center for Craniofrontonasal Syndrome

Cochrane evidence based reviews: craniofrontonasal dysplasia

Genetic Tests for Craniofrontonasal Syndrome

Genetic tests related to Craniofrontonasal Syndrome:

# Genetic test Affiliating Genes
1 Craniofrontonasal Syndrome 29 EFNB1

Anatomical Context for Craniofrontonasal Syndrome

MalaCards organs/tissues related to Craniofrontonasal Syndrome:

40
Eye, Breast, Bone, Bone Marrow, Brain

Publications for Craniofrontonasal Syndrome

Articles related to Craniofrontonasal Syndrome:

(show top 50) (show all 112)
# Title Authors PMID Year
1
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes. 61 57 6
23335590 2013
2
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. 6 57 61
15166289 2004
3
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. 61 6 57
15124102 2004
4
Craniofrontonasal dysplasia. 6 57 61
1468459 1992
5
Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression? 6 57
6627724 1983
6
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. 61 57
20734337 2010
7
Additional EFNB1 mutations in craniofrontonasal syndrome. 61 57
18627045 2008
8
Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic. 61 57
18043713 2008
9
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. 61 57
17941886 2007
10
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. 57 61
16639408 2006
11
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. 61 6
16685650 2006
12
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). 57 61
15959873 2005
13
Craniofrontonasal syndrome and diaphragmatic hernia. 57 61
12116215 2002
14
Mapping of a further locus for X-linked craniofrontonasal syndrome. 61 57
12900576 2002
15
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. 61 57
9302274 1997
16
Craniofrontonasal syndrome: study of 41 patients. 57 61
8669441 1996
17
Craniofrontonasal dysplasia: more severe expression in the mother than in her son. 57 61
8775424 1995
18
Craniofrontonasal dysostosis: variable expression in a three-generation family. 61 57
2289316 1990
19
Craniofrontonasal dysostosis with deafness and axillary pterygia. 57 61
2688423 1989
20
Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations. 61 57
3283635 1988
21
Craniofrontonasal dysplasia. 61 57
3346887 1988
22
Delineation of the male phenotype in carniofrontonasal syndrome. 57 61
3631134 1987
23
Craniofrontonasal dysplasia. 61 57
3585934 1987
24
Craniofrontonasal dysplasia: clinical and genetic analysis. 61 57
3742856 1986
25
A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently. 57 61
3742859 1986
26
Craniofrontonasal dysplasia--a distinct entity with lethality in the male? 61 57
6723109 1984
27
Craniofrontonasal dysplasia in a three-generation kindred. 61 57
7166597 1982
28
A pedigree possible evidence for the metabolic interference hypothesis. 57
7294029 1981
29
Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive. 57
6770678 1980
30
Intracranial Volume Measured and Correlated to Cephalic Index in Syndromic and Nonsyndromic Anterior Brachycephaly. 61
33587462 2021
31
Strategy for Bone Conservation in the Two-Stage Correction of Hypertelorism in Craniofrontonasal Dysplasia. 61
32833831 2020
32
Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1. 61
32240825 2020
33
Implications for the Multi-Disciplinary Management of Children With Craniofrontonasal Syndrome. 61
32371695 2020
34
Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation. 61
32022998 2020
35
Aberrant cell segregation in the craniofacial primordium and the emergence of facial dysmorphology in craniofrontonasal syndrome. 61
32092051 2020
36
Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay. 61
32984200 2020
37
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome. 61
31285555 2019
38
Report of a Family with Craniofrontonasal Syndrome and Wolff-Parkinson-White Syndrome: Is it a New Finding? 61
31188966 2019
39
[A case of craniofrontonasal syndrome]. 61
31060132 2019
40
Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of EFNB1. 61
30976278 2019
41
A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate. 61
28140668 2018
42
Molecular Analysis of Ephrin A4 and Ephrin B1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin. 61
28135115 2018
43
microRNAs associated with early neural crest development in Xenopus laevis. 61
29347911 2018
44
Surgical approach of hypertelorbitism in craniofrontonasal dysplasia. 61
29019542 2017
45
Surgical Strategies for Soft Tissue Management in Hypertelorbitism. 61
27740959 2017
46
Ocular Morbidity in the Correction of Orbital Hypertelorism and Dystopia: A 15-Year Experience. 61
28350678 2017
47
EPHRIN-B1 Mosaicism Drives Cell Segregation in Craniofrontonasal Syndrome hiPSC-Derived Neuroepithelial Cells. 61
28238796 2017
48
Unidirectional Eph/ephrin signaling creates a cortical actomyosin differential to drive cell segregation. 61
27810913 2016
49
First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis. 61
27650623 2016
50
Genetic Syndromes Associated with Craniosynostosis. 61
27226847 2016

Variations for Craniofrontonasal Syndrome

ClinVar genetic disease variations for Craniofrontonasal Syndrome:

6 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EFNB1 NM_004429.4(EFNB1):c.451G>A (p.Gly151Ser) SNV Pathogenic 11709 rs28936069 X:68059551-68059551 X:68839708-68839708
2 EFNB1 NM_004429.4(EFNB1):c.452G>T (p.Gly151Val) SNV Pathogenic 11710 rs28936070 X:68059552-68059552 X:68839709-68839709
3 EFNB1 NM_004429.4(EFNB1):c.472A>G (p.Met158Val) SNV Pathogenic 11711 rs28936071 X:68059572-68059572 X:68839729-68839729
4 EFNB1 NM_004429.4(EFNB1):c.474G>T (p.Met158Ile) SNV Pathogenic 11712 rs28935170 X:68059574-68059574 X:68839731-68839731
5 EFNB1 NM_004429.4(EFNB1):c.109T>G (p.Trp37Gly) SNV Pathogenic 11713 rs104894802 X:68049728-68049728 X:68829885-68829885
6 EFNB1 NM_004429.4(EFNB1):c.110G>A (p.Trp37Ter) SNV Pathogenic 11714 rs104894803 X:68049729-68049729 X:68829886-68829886
7 EFNB1 NM_004429.4(EFNB1):c.196C>T (p.Arg66Ter) SNV Pathogenic 11715 rs104894804 X:68058527-68058527 X:68838684-68838684
8 EFNB1 NM_004429.4(EFNB1):c.496C>T (p.Gln166Ter) SNV Pathogenic 100627 rs587777109 X:68059596-68059596 X:68839753-68839753
9 EFNB1 NC_000023.10:g.(68059108_68059111)_(68067499_68067502)del Deletion Pathogenic 100628 X:68059108-68067502 X:68839265-68847659
10 EFNB1 EFNB1, EX2-5DEL Deletion Pathogenic 11706
11 EFNB1 NM_004429.4(EFNB1):c.332C>T (p.Thr111Ile) SNV Pathogenic 11707 rs104894796 X:68058663-68058663 X:68838820-68838820
12 EFNB1 NM_004429.4(EFNB1):c.561del (p.Asn187fs) Deletion Pathogenic 374806 rs1057519035 X:68059864-68059864 X:68840021-68840021
13 EFNB1 NM_004429.4(EFNB1):c.560_561AC[1] (p.Thr188fs) Microsatellite Pathogenic 435028 rs1556107925 X:68059863-68059864 X:68840020-68840021
14 EFNB1 NM_004429.4(EFNB1):c.128+2T>A SNV Pathogenic 435026 rs1556096780 X:68049749-68049749 X:68829906-68829906
15 EFNB1 NM_004429.4(EFNB1):c.253C>T (p.Gln85Ter) SNV Pathogenic 812706 X:68058584-68058584 X:68838741-68838741
16 EFNB1 NM_004429.4(EFNB1):c.499+2_499+7del Deletion Likely pathogenic 691566 rs1602671282 X:68059600-68059605 X:68839757-68839762
17 EFNB1 NM_004429.5(EFNB1):c.182A>G (p.Asp61Gly) SNV Likely pathogenic 981194 X:68058513-68058513 X:68838670-68838670
18 EFNB1 NM_004429.5(EFNB1):c.128+5G>A SNV Likely pathogenic 981193 X:68049752-68049752 X:68829909-68829909
19 EFNB1 NM_004429.5(EFNB1):c.635_636del (p.Val212fs) Microsatellite Likely pathogenic 981192 X:68060089-68060090 X:68840246-68840247
20 EFNB1 NM_004429.5(EFNB1):c.453_454TG[4] (p.Arg154fs) Microsatellite Likely pathogenic 917767 X:68059551-68059552 X:68839708-68839709
21 EFNB1 NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter) SNV Likely pathogenic 929457 X:68049643-68049643 X:68829800-68829800
22 EFNB1 NM_004429.4(EFNB1):c.523C>T (p.Gln175Ter) SNV Likely pathogenic 435029 rs1556107856 X:68059826-68059826 X:68839983-68839983
23 EFNB1 NM_004429.4(EFNB1):c.131T>C (p.Phe44Ser) SNV Likely pathogenic 435027 rs1556105849 X:68058462-68058462 X:68838619-68838619
24 EFNB1 NM_004429.4(EFNB1):c.499+1G>A SNV Likely pathogenic 559938 rs1556107481 X:68059600-68059600 X:68839757-68839757
25 EFNB1 NM_004429.4(EFNB1):c.161C>T (p.Pro54Leu) SNV Likely pathogenic 11708 rs104894801 X:68058492-68058492 X:68838649-68838649
26 EFNB1 NM_004429.4(EFNB1):c.466C>T (p.Arg156Cys) SNV Likely pathogenic 374805 rs1057519034 X:68059566-68059566 X:68839723-68839723
27 EFNB1 NM_004429.4(EFNB1):c.407C>T (p.Ser136Leu) SNV Likely pathogenic 374804 rs1057519033 X:68059507-68059507 X:68839664-68839664
28 EFNB1 NM_004429.4(EFNB1):c.271A>C (p.Thr91Pro) SNV Uncertain significance 374803 rs1057519032 X:68058602-68058602 X:68838759-68838759
29 EFNB1 NM_004429.4(EFNB1):c.749T>G (p.Ile250Ser) SNV Uncertain significance 634590 rs1569398326 X:68060205-68060205 X:68840362-68840362
30 EFNB1 NM_004429.4(EFNB1):c.566T>C (p.Val189Ala) SNV Benign 374807 rs16989105 X:68059869-68059869 X:68840026-68840026

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

73 (show all 19)
# 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

Copy number variations for Craniofrontonasal Syndrome from CNVD:

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

Expression for Craniofrontonasal Syndrome

Search GEO for disease gene expression data for Craniofrontonasal Syndrome.

Pathways for Craniofrontonasal Syndrome

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

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 NCK2 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
2
Show member pathways
12.85 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
3
Show member pathways
12.82 NCK2 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
4
Show member pathways
12.44 NCK2 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
5
Show member pathways
12.3 NCK2 EPHA4 EPHA1 EFNA4 EFNA2
6
Show member pathways
12.23 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
7 12.16 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
8 12.13 NCK2 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
9
Show member pathways
12.08 NCK2 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
10 11.97 EPHB2 EPHB1 EPHA4 EPHA1 EFNB3 EFNB2
11 11.92 NCK2 EPHA4 EPHA1 EFNA4 EFNA2
12
Show member pathways
11.89 EPHA4 EPHA1 EFNA4 EFNA2
13 11.78 EPHB2 EPHB1 EFNB3 EFNB2 EFNB1
14 11.62 NCK2 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
15 11.55 EPHA4 EPHA1 EFNA4 EFNA2
16 11.15 NCK2 EPHB2 EPHB1 EFNB2 EFNB1
17 10.85 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1

GO Terms for Craniofrontonasal Syndrome

Cellular components related to Craniofrontonasal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.17 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1 EFNB3
2 integral component of plasma membrane GO:0005887 9.81 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1 EFNB3
3 dendrite GO:0030425 9.77 OPHN1 EPHB3 EPHB2 EPHB1 EPHA4
4 neuron projection GO:0043005 9.72 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
5 axon GO:0030424 9.71 OPHN1 EPHB2 EPHB1 EPHA4
6 receptor complex GO:0043235 9.65 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
7 glutamatergic synapse GO:0098978 9.43 OPHN1 EPHB2 EPHB1 EPHA4 EFNB3 EFNB2
8 integral component of presynaptic membrane GO:0099056 8.92 EPHB2 EPHA4 EFNB3 EFNB2

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 10.04 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
2 cell adhesion GO:0007155 10.03 EPHB1 EPHA4 EPHA1 EFNB2 EFNB1
3 protein phosphorylation GO:0006468 10.02 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
4 angiogenesis GO:0001525 9.93 EPHB3 EPHB2 EPHB1 EPHA1 EFNB2
5 multicellular organism development GO:0007275 9.93 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1 EFNB3
6 nervous system development GO:0007399 9.92 OPHN1 EPHB3 EPHB2 EPHB1 EPHA4 EFNB3
7 cell-cell signaling GO:0007267 9.91 EFNB3 EFNB2 EFNB1 EFNA4 EFNA2
8 protein autophosphorylation GO:0046777 9.87 EPHB3 EPHB1 EPHA4 EPHA1
9 peptidyl-tyrosine phosphorylation GO:0018108 9.83 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
10 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.8 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
11 regulation of GTPase activity GO:0043087 9.78 EPHB3 EPHA4 EPHA1
12 roof of mouth development GO:0060021 9.77 EPHB3 EPHB2 ALX4
13 positive regulation of kinase activity GO:0033674 9.77 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
14 positive regulation of synapse assembly GO:0051965 9.76 EPHB3 EPHB2 EPHB1
15 embryonic skeletal system morphogenesis GO:0048704 9.75 ALX4 ALX3 ALX1
16 regulation of axonogenesis GO:0050770 9.7 EPHB3 EPHB2 EPHA4
17 ephrin receptor signaling pathway GO:0048013 9.7 NCK2 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
18 dendritic spine morphogenesis GO:0060997 9.67 EPHB3 EPHB2 EPHB1
19 embryonic forelimb morphogenesis GO:0035115 9.66 ALX4 ALX3
20 regulation of Rho protein signal transduction GO:0035023 9.66 STARD8 OPHN1
21 embryonic hindlimb morphogenesis GO:0035116 9.65 ALX4 ALX3
22 adult walking behavior GO:0007628 9.65 EPHA4 EFNB3
23 camera-type eye morphogenesis GO:0048593 9.65 EPHB2 EPHB1
24 retinal ganglion cell axon guidance GO:0031290 9.65 EPHB3 EPHB2 EPHB1
25 negative regulation of axonogenesis GO:0050771 9.64 EPHB2 EFNB3
26 axonal fasciculation GO:0007413 9.63 EPHB3 EPHB2
27 central nervous system projection neuron axonogenesis GO:0021952 9.63 EPHB3 EPHB2 EPHB1
28 urogenital system development GO:0001655 9.62 EPHB3 EPHB2
29 immunological synapse formation GO:0001771 9.61 NCK2 EPHB1
30 corpus callosum development GO:0022038 9.6 EPHB3 EPHB2
31 optic nerve morphogenesis GO:0021631 9.56 EPHB2 EPHB1
32 dendritic spine development GO:0060996 9.56 NCK2 EPHB3 EPHB2 EPHB1
33 trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission GO:0099557 9.55 EPHB2 EFNB3
34 axon guidance GO:0007411 9.36 OPHN1 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1

Molecular functions related to Craniofrontonasal Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.83 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
2 protein kinase activity GO:0004672 9.8 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
3 protein tyrosine kinase activity GO:0004713 9.72 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.65 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
5 ephrin receptor activity GO:0005003 9.55 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1
6 axon guidance receptor activity GO:0008046 9.54 EPHB3 EPHB2 EPHB1
7 ephrin receptor binding GO:0046875 9.43 EPHA4 EFNB3 EFNB2 EFNB1 EFNA4 EFNA2
8 transmembrane-ephrin receptor activity GO:0005005 9.17 EPHB3 EPHB2 EPHB1 EPHA4 EPHA1 EFNB3

Sources for Craniofrontonasal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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