CFM
MCID: CRN051
MIFTS: 61

Craniofacial Microsomia (CFM)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Craniofacial Microsomia

MalaCards integrated aliases for Craniofacial Microsomia:

Name: Craniofacial Microsomia 57 19 42 73 28 5
Goldenhar Syndrome 57 11 19 42 75 73 28 5 43 14 71
Hemifacial Microsomia 57 11 19 42 75 73 12
Oculo-Auriculo-Vertebral Spectrum 19 58 75 73
Oculoauriculovertebral Spectrum 57 42 58 73
Oavs 57 19 42 73
First and Second Branchial Arch Syndrome 11 19 42
Facioauriculovertebral Sequence 57 19 73
Oav Dysplasia 57 19 73
Fav Sequence 57 19 73
Cfm 57 42 73
Oculo-Auriculo-Vertebral Dysplasia 19 75
Facio-Auriculo-Vertebral Spectrum 11 73
Oculoauriculovertebral Dysplasia 57 19
Facioauriculovertebral Dysplasia 19 42
Otomandibular Dysostosis 11 42
Hfm 57 42
Goldenhar Syndrome with Ipsilateral Radial Defect 71
Expanded Spectrum of Hemifacial Microsomia 19
Asymmetric Hypoplasia of Facial Structures 42
First and Second Pharyngeal Arch Syndromes 42
Expanded Spectrum Hemifacial Microsomia 19
Unilateral Intrauterine Facial Necrosis 42
Unilateral Mandibulofacial Dysostosis 42
Oral-Mandibular-Auricular Syndrome 42
Oculoauricular Vertebral Dysplasia 73
Oculoauriculovertebral Syndrome 19
Auriculobranchiogenic Dysplasia 42
Goldenhar-Gorlin Syndrome 42
Lateral Facial Dysplasia 42
Microsomia, Hemifacial 38
First Arch Syndrome 11
Goldenhar Disease 19
Oav Dysplasia 11
Oav Spectrum 58
Oav Complex 42
Oavd 19
Fav 42

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

Oculo-Auriculo-Vertebral Spectrum: 1-9/100000 (Worldwide, Worldwide, Japan) 1-9/1000000 (France) 1-5/10000 (Australia) 58

Age Of Onset:

Oculo-Auriculo-Vertebral Spectrum: Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
inter- and intrafamilial phenotypic variability
lesions are most commonly unilateral


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Craniofacial Microsomia

MedlinePlus Genetics: 42 Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected.People with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss.Abnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia.Many other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia.

MalaCards based summary: Craniofacial Microsomia, also known as goldenhar syndrome, is related to microtia and treacher collins syndrome 1. An important gene associated with Craniofacial Microsomia is SF3B2 (Splicing Factor 3b Subunit 2), and among its related pathways/superpathways are Neural crest differentiation and Kallmann syndrome. The drugs Curcumin and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and skin, and related phenotypes are scoliosis and ptosis

OMIM®: 57 Craniofacial microsomia (CFM) is an autosomal dominant disorder characterized by mandibular hypoplasia, microtia, facial and preauricular skin tags, epibulbar dermoids, and lateral oral clefts, in addition to skeletal and cardiac abnormalities. Inter- and intrafamilial variability has been observed (Timberlake et al., 2021). Hemifacial microsomia is a common birth defect involving the first and second branchial arch derivatives. It typically affects the external ear, middle ear, mandible and temporomandibular joint, muscles of mastication and facial muscles, and other facial soft tissues on the affected side. In some cases, other facial structures, such as the orbit, eye, nose, cranium, or neck, may be involved. Involvement is usually limited to one side, but bilateral involvement is known. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. The phenotype is highly variable. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance (summary by Poole, 1989 and Hennekam et al., 2010). See also hemifacial microsomia with radial defects (141400) and oculoauriculofrontonasal dysplasia (OAFNS; 601452), which may be part of the OAV spectrum. Another disorder that overlaps clinically with CFM is Townes-Brocks syndrome (TBS; 107480). (164210) (Updated 08-Dec-2022)

GARD: 19 Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. The main sign and symptoms are facial asymmetry (one side of the face is different from the other), a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenhar disease may also affect the heart, lungs, kidneys, and central nervous system. It is due to problems that occur when the fetus is forming within the womb of the mother, in structures known as the first and second brachial arch. These structures will develop to form the neck and the head. The cause is still unknown. Goldenhar syndrome is part of a group of conditions known as craniofacial microsomia. It is not known whether the conditions included in the group really are different conditions or part of the same problem with different degrees of severity.

Orphanet: 58 A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.

UniProtKB/Swiss-Prot: 73 An autosomal dominant congenital anomaly characterized by mandibular hypoplasia, microtia, facial and preauricular skin tags, epibulbar dermoids, and lateral oral clefts. Affected individuals also present skeletal and cardiac abnormalities.

Disease Ontology: 11 A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.

Wikipedia 75 Goldenhar syndrome: Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose,... more...

Hemifacial microsomia: Hemifacial microsomia (HFM) is a congenital disorder that affects the development of the lower half of... more...

Related Diseases for Craniofacial Microsomia

Diseases related to Craniofacial Microsomia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 387)
# Related Disease Score Top Affiliating Genes
1 microtia 31.2 TCOF1 HOXA2
2 treacher collins syndrome 1 30.5 TCOF1 POLR1D MSX1 FGF8 EFTUD2
3 heart septal defect 30.3 TBX1 RNU4ATAC FGF8
4 mandibulofacial dysostosis, guion-almeida type 30.1 TCOF1 RNU4ATAC EFTUD2
5 choanal atresia, posterior 30.1 TCOF1 FGF8 EFTUD2
6 charge syndrome 30.0 TCOF1 TBX1 OTX2 FGF8 EFTUD2
7 postaxial acrofacial dysostosis 30.0 TCOF1 POLR1D EFTUD2
8 acrofacial dysostosis 1, nager type 30.0 TCOF1 SF3B2 RNU4ATAC POLR1D EFTUD2
9 atrial heart septal defect 30.0 TBX1 RNU4ATAC MSX1
10 tooth agenesis 29.9 TCOF1 MSX2 MSX1 FGF8
11 cleft lip 29.7 MSX2 MSX1 FGF8
12 ankyloglossia with or without tooth anomalies 29.7 TBX1 MSX1
13 parietal foramina 29.4 MSX2 MSX1 FGF8
14 double outlet right ventricle 29.3 TBX1 MSX2 MSX1 FGF8
15 synostosis 29.3 RNU4ATAC MSX2 MSX1 GDF6 FGF8
16 osteochondrodysplasia 29.2 RNU4ATAC NKX3-2 MSX2 MSX1 FGF8
17 dysostosis 29.2 TCOF1 RNU4ATAC OTX2 MSX2 FGF8 EFTUD2
18 branchiootic syndrome 29.1 ZYG11B YPEL1 XXYLT1 TCOF1 SALL1 PAX1
19 coloboma of macula 28.5 TCOF1 TBX1 SALL1 POLR1D OTX2 MSX1
20 cleft palate, isolated 28.3 TCOF1 TBX1 POLR1D PAX1 MSX2 MSX1
21 hemifacial microsomia with radial defects 11.7
22 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 11.5
23 folate malabsorption, hereditary 11.4
24 vacterl association 11.3
25 klippel-feil syndrome 11.2
26 macrostomia-preauricular tags-external ophthalmoplegia syndrome 11.1
27 hemifacial hyperplasia 10.6
28 basal cell nevus syndrome 10.4
29 microtia-anotia 10.4
30 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
31 cleft lip/palate 10.3
32 apnea, obstructive sleep 10.3
33 spondylocostal dysostosis 1, autosomal recessive 10.3
34 macrostomia, isolated 10.3
35 bell's palsy 10.3
36 ear malformation 10.3
37 renal hypodysplasia/aplasia 1 10.3
38 vater/vacterl association 10.3
39 ventricular septal defect 10.3
40 overgrowth syndrome 10.3
41 treacher collins syndrome 2 10.2 TCOF1 POLR1D
42 corneal ulcer 10.2
43 acrofacial dysostosis, cincinnati type 10.2 TCOF1 POLR1D
44 hypogonadotropic hypogonadism 5 with or without anosmia 10.2 TCOF1 POLR1D
45 hemifacial atrophy, progressive 10.2
46 acrofacial dysostosis 10.2 TCOF1 POLR1D EFTUD2
47 chromosome 10p duplication 10.2
48 keratitis, hereditary 10.2
49 coloboma, ocular, autosomal dominant 10.2
50 neurofibromatosis, type i 10.2

Graphical network of the top 20 diseases related to Craniofacial Microsomia:



Diseases related to Craniofacial Microsomia

Symptoms & Phenotypes for Craniofacial Microsomia

Human phenotypes related to Craniofacial Microsomia:

30 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 Very rare (1%) HP:0002650
2 ptosis 30 Very rare (1%) HP:0000508
3 microtia 30 Very rare (1%) HP:0008551
4 genu valgum 30 Very rare (1%) HP:0002857
5 strabismus 30 Very rare (1%) HP:0000486
6 micrognathia 30 Very rare (1%) HP:0000347
7 facial asymmetry 30 Very rare (1%) HP:0000324
8 preauricular skin tag 30 Very rare (1%) HP:0000384
9 amblyopia 30 Very rare (1%) HP:0000646
10 ventricular septal defect 30 Very rare (1%) HP:0001629
11 partial duplication of thumb phalanx 30 Very rare (1%) HP:0009944
12 atresia of the external auditory canal 30 Very rare (1%) HP:0000413
13 mild global developmental delay 30 Very rare (1%) HP:0011342
14 cervical ribs 30 Very rare (1%) HP:0000891
15 maxillozygomatic hypoplasia 30 Very rare (1%) HP:0005439
16 upper eyelid coloboma 30 Very rare (1%) HP:0000636
17 underdeveloped tragus 30 Very rare (1%) HP:0011272
18 right aortic arch 30 Very rare (1%) HP:0012020
19 limbal dermoid 30 Very rare (1%) HP:0001140
20 duplicated tragus 30 Very rare (1%) HP:0011270
21 transverse facial cleft 30 Very rare (1%) HP:0100731
22 intellectual disability 30 HP:0001249
23 agenesis of corpus callosum 30 HP:0001274
24 hydrocephalus 30 HP:0000238
25 sensorineural hearing impairment 30 HP:0000407
26 cleft palate 30 HP:0000175
27 ectopic kidney 30 HP:0000086
28 coarctation of aorta 30 HP:0001680
29 conductive hearing impairment 30 HP:0000405
30 cleft upper lip 30 HP:0000204
31 anophthalmia 30 HP:0000528
32 microphthalmia 30 HP:0000568
33 tetralogy of fallot 30 HP:0001636
34 patent ductus arteriosus 30 HP:0001643
35 vesicoureteral reflux 30 HP:0000076
36 hemivertebrae 30 HP:0002937
37 malar flattening 30 HP:0000272
38 wide mouth 30 HP:0000154
39 blepharophimosis 30 HP:0000581
40 multicystic kidney dysplasia 30 HP:0000003
41 ureteropelvic junction obstruction 30 HP:0000074
42 block vertebrae 30 HP:0003305
43 branchial anomaly 30 HP:0009794
44 pulmonary hypoplasia 30 HP:0002089
45 renal agenesis 30 HP:0000104
46 occipital encephalocele 30 HP:0002085
47 anotia 30 HP:0009892
48 vertebral hypoplasia 30 HP:0008417
49 hemifacial hypoplasia 30 HP:0011332
50 chiari malformation 30 HP:0002308

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Teeth:
dental malocclusion

Head And Neck Face:
facial asymmetry
maxillary hypoplasia
mandibular hypoplasia
zygomatic arch hypoplasia
facial skin tags

Head And Neck Mouth:
macrostomia
lateral oral clefting

Cardiovascular Vascular:
absent left pulmonary artery (rare)
aberrant left subclavian artery (rare)
right-sided aortic arch (rare)

Skeletal Skull:
hypoplasia of mandibular ramus
hypoplasia of mandibular condyle
hypoplasia of maxilla
hypoplasia of zygomatic arch
hypoplasia of temporal bone

Head And Neck Ears:
microtia
duplicated tragus
hearing loss, conductive
preauricular skin tags
hypoplastic or absent tragus
more
Head And Neck Eyes:
epibulbar dermoid
orbital dystopia
ptosis (uncommon)
eyelid coloboma (rare)

Cardiovascular Heart:
multiple muscular ventricular septal defects (rare)

Chest Ribs Sternum Clavicles And Scapulae:
cervical ribs, unilateral or bilateral
hypoplastic 12th ribs (rare)

Skin Nails Hair Skin:
cutaneous syndactyly of digits (in some patients)

Clinical features from OMIM®:

164210 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Craniofacial Microsomia:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.25 FGF8 GDF6 HOXA2 MSX1 MSX2 NKX3-2
2 growth/size/body region MP:0005378 10.25 EFTUD2 FGF8 GDF6 HOXA2 MSX1 MSX2
3 muscle MP:0005369 10.19 EFTUD2 FGF8 HOXA2 MSX1 MSX2 MYT1
4 normal MP:0002873 10.18 FGF8 HOXA2 MSX1 MSX2 NKX3-2 OTX2
5 hearing/vestibular/ear MP:0005377 10.16 FGF8 GDF6 HOXA2 MSX1 MSX2 NKX3-2
6 embryo MP:0005380 10.15 EFTUD2 FGF8 HOXA2 MSX1 MSX2 NKX3-2
7 limbs/digits/tail MP:0005371 10.13 FGF8 GDF6 MSX1 MSX2 NKX3-2 PAX1
8 endocrine/exocrine gland MP:0005379 10.06 FGF8 MSX1 MSX2 MYT1 NKX3-2 OTX2
9 digestive/alimentary MP:0005381 9.97 FGF8 HOXA2 MSX1 MSX2 NKX3-2 OTX2
10 craniofacial MP:0005382 9.96 FGF8 GDF6 HOXA2 MSX1 MSX2 NKX3-2
11 respiratory system MP:0005388 9.7 FGF8 HOXA2 MSX1 NKX3-2 OTX2 TBX1
12 skeleton MP:0005390 9.7 FGF8 GDF6 HOXA2 MSX1 MSX2 NKX3-2
13 mortality/aging MP:0010768 9.5 EFTUD2 FGF8 GDF6 HOXA2 MSX1 MSX2

Drugs & Therapeutics for Craniofacial Microsomia

Drugs for Craniofacial Microsomia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Curcumin Approved, Investigational Phase 1 458-37-7, 84765-67-3 969516
2 Analgesics Phase 1
3 Antirheumatic Agents Phase 1
4 Anti-Inflammatory Agents, Non-Steroidal Phase 1
5 Analgesics, Non-Narcotic Phase 1
6 Anti-Inflammatory Agents Phase 1
7
Cimetidine Approved, Investigational 51481-61-9 2756
8 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized Controlled Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells for Facial Soft Tissue Augmentation in Patients With Craniofacial Microsomia. Completed NCT01674439 Phase 2
2 Supplementation of Autologous Fat Grafts With Curcumin Preconditioned Adipose-Derived Stem Cells in the Treatment of Facial Contour Deformities Recruiting NCT05610878 Phase 1
3 Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology Unknown status NCT04351893
4 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
5 Potential of Mesenchymal Stem Cell Enriched Adipose Tissue Grafting for Contour Deformities of Face Unknown status NCT02494752
6 Identification and Investigation of a Gene Involved in Monogenic Forms of Goldenhar Syndrome. Completed NCT04056858
7 Fat Grafts Supplemented With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children With Craniofacial Microsomia Completed NCT03806361
8 Technical Notes on Novel Technique and Step by Step Construction of Computer Guided for Mandibular Distraction Osteogenesis Completed NCT03869021
9 The Effect of Bone Marrow Aspirate Concentrate on Bone Regenerate During Rapid Mandibular Distraction Osteogensis Completed NCT03861650
10 Clinical Evaluation of Biomet Microfixation Devices Used in Facial & Mandibular Surgical Procedures. Facial Plating System, HTR PEKK (Midface) and Mandibular Plates: A Post Market Clinical Follow-up Study Recruiting NCT04931056

Search NIH Clinical Center for Craniofacial Microsomia

Cochrane evidence based reviews: goldenhar syndrome

Genetic Tests for Craniofacial Microsomia

Genetic tests related to Craniofacial Microsomia:

# Genetic test Affiliating Genes
1 Goldenhar Syndrome 28 SF3B2
2 Craniofacial Microsomia 28

Anatomical Context for Craniofacial Microsomia

Organs/tissues related to Craniofacial Microsomia:

MalaCards : Eye, Bone, Skin, Trachea, Heart, Kidney, Bone Marrow

Publications for Craniofacial Microsomia

Articles related to Craniofacial Microsomia:

(show top 50) (show all 2072)
# Title Authors PMID Year
1
Haploinsufficiency of SF3B2 causes craniofacial microsomia. 62 57 5
34344887 2021
2
Familial hemifacial microsomia due to autosomal dominant inheritance. Case reports. 62 57 5
7811205 1994
3
Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS. 62 5
32738032 2020
4
A novel de novo mutation in MYT1, the unique OAVS gene identified so far. 62 57
28612832 2017
5
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS. 62 57
27358179 2016
6
Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update. 62 57
25118188 2014
7
Expanded spectrum of oculo-auriculo-vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations. 62 57
21188766 2011
8
Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1. 62 57
19213029 2009
9
Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. 62 57
18792983 2008
10
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). 62 57
18553555 2008
11
Goldenhar syndrome associated with growth hormone deficiency. 62 57
18618991 2008
12
Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome. 62 57
17786119 2007
13
Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. 62 57
17506093 2007
14
Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. 62 57
17297623 2007
15
Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome. 62 57
17431915 2007
16
A family with autosomal dominant oculo-auriculo-vertebral spectrum. 62 57
17159507 2007
17
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 62 57
16761296 2006
18
Oculoauriculovertebral spectrum with 5p15.33-pter deletion. 62 57
16760734 2006
19
Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. 62 57
16407370 2006
20
Clinical manifestations in 17 Greek patients with Goldenhar syndrome. 62 57
17100205 2006
21
Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum? 62 57
15800906 2005
22
Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement. 62 57
15194950 2004
23
Relation between oculo-auriculo-vertebral (OAV) dysplasia and three other non-random associations of malformations (VATER, CHARGE, and OEIS). 62 57
15103713 2004
24
Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome? 62 57
12825068 2003
25
Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. 62 57
12494430 2003
26
Caruncle abnormalities in the oculo-auriculo-vertebral spectrum. 62 57
12457402 2002
27
Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach. 62 57
12410187 2002
28
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. 62 57
11810276 2001
29
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene. 62 57
11478532 2001
30
A family with dominant oculoauriculovertebral spectrum. 62 57
9714437 1998
31
Oculo-auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism. 62 57
8818446 1996
32
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. 62 57
8669439 1996
33
Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum. 62 57
7586653 1995
34
Transgenic mouse model of hemifacial microsomia: cloning and characterization of insertional mutation region on chromosome 10. 62 57
7531669 1994
35
A case of Goldenhar syndrome associated with growth hormone deficiency. 62 57
8358046 1993
36
Trisomy 22 and facioauriculovertebral (Goldenhar) sequence. 62 57
8494034 1993
37
Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome). 62 57
1442880 1992
38
Hemifacial microsomia. 62 57
2773499 1989
39
Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy. 62 57
3681908 1987
40
Goldenhar complex in discordant monozygotic twins: a case report and review of the literature. 62 57
3314503 1987
41
Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. 62 57
3812588 1987
42
Genetic aspects of hemifacial microsomia. 62 57
6542550 1984
43
Hemifacial microsomia and variants: pedigree data. 62 57
6881197 1983
44
Cranial defects in the Goldenhar syndrome. 62 57
6859095 1983
45
Genetic aspects of hemifacial microsomia. 62 57
6684097 1983
46
Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia. 62 57
7094392 1982
47
Autosomal dominant Goldenhar syndrome. 62 57
7171780 1982
48
Etiologic heterogeneity in the oculoauriculovertebral syndrome. 62 57
7452414 1981
49
Goldenhar syndrome and hemifacial microsomia: observations on three patients. 62 57
7389743 1980
50
Hemifacial microsomia. 62 57
4998565 1971

Variations for Craniofacial Microsomia

ClinVar genetic disease variations for Craniofacial Microsomia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SF3B2 NM_006842.3(SF3B2):c.1780-2del DEL Pathogenic
1342661 GRCh37: 11:65829155-65829155
GRCh38: 11:66061684-66061684
2 SF3B2 NM_006842.3(SF3B2):c.1912C>T (p.Arg638Ter) SNV Pathogenic
1342662 GRCh37: 11:65829404-65829404
GRCh38: 11:66061933-66061933
3 SF3B2 NM_006842.3(SF3B2):c.1A>T (p.Met1Leu) SNV Pathogenic
1342663 GRCh37: 11:65819856-65819856
GRCh38: 11:66052385-66052385
4 SF3B2 NM_006842.3(SF3B2):c.2480dup (p.Leu828fs) DUP Pathogenic
1342664 GRCh37: 11:65835667-65835668
GRCh38: 11:66068196-66068197
5 ZYG11B NM_024646.3(ZYG11B):c.628C>T (p.Arg210Ter) SNV Likely Pathogenic
1691311 GRCh37: 1:53237123-53237123
GRCh38: 1:52771451-52771451
6 PAX1 NM_001257096.2(PAX1):c.1154_1157dup (p.Tyr386Ter) DUP Likely Pathogenic
1342295 GRCh37: 20:21689953-21689954
GRCh38: 20:21709315-21709316
7 FRK NM_002031.3(FRK):c.484G>A (p.Val162Ile) SNV Uncertain Significance
1162776 GRCh37: 6:116289885-116289885
GRCh38: 6:115968722-115968722
8 overlap with 8 genes GRCh37/hg19 4q35.1-35.2(chr4:186473718-187912600)x3 CN GAIN Uncertain Significance
1704311 GRCh37: 4:186473718-187912600
GRCh38:

Expression for Craniofacial Microsomia

Search GEO for disease gene expression data for Craniofacial Microsomia.

Pathways for Craniofacial Microsomia

Pathways related to Craniofacial Microsomia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.14 MSX2 MSX1 FGF8
2 10.48 OTX2 FGF8
3 10.28 OTX2 MSX1 FGF8

GO Terms for Craniofacial Microsomia

Cellular components related to Craniofacial Microsomia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.53 TBX1 PAX1 OTX2 NKX3-2 MYT1 MSX2

Biological processes related to Craniofacial Microsomia according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 regulation of DNA-templated transcription GO:0006355 10.19 TBX1 PAX1 OTX2 NKX3-2 MYT1 MSX2
2 anterior/posterior pattern specification GO:0009952 10.1 HOXA2 MSX1 MSX2 TBX1
3 determination of left/right symmetry GO:0007368 10.01 TBX1 NKX3-2 FGF8
4 heart morphogenesis GO:0003007 9.97 FGF8 MSX1 TBX1
5 gonad development GO:0008406 9.92 SALL1 FGF8
6 negative regulation of transcription regulatory region DNA binding GO:2000678 9.92 MSX2 MSX1
7 embryonic viscerocranium morphogenesis GO:0048703 9.91 TBX1 HOXA2
8 embryonic digit morphogenesis GO:0042733 9.89 SALL1 MSX2 MSX1
9 BMP signaling pathway involved in heart development GO:0061312 9.88 MSX2 MSX1
10 outflow tract morphogenesis GO:0003151 9.88 TBX1 MSX2 FGF8
11 embryonic hindlimb morphogenesis GO:0035116 9.88 MSX2 MSX1 FGF8
12 pattern specification process GO:0007389 9.85 TBX1 PAX1 HOXA2
13 outflow tract septum morphogenesis GO:0003148 9.85 TBX1 MSX2 FGF8
14 odontogenesis GO:0042476 9.83 MSX2 MSX1 FGF8
15 activation of meiosis GO:0090427 9.81 MSX2 MSX1
16 signal transduction involved in regulation of gene expression GO:0023019 9.8 FGF8 MSX1 MSX2
17 bone morphogenesis GO:0060349 9.78 PAX1 MSX2 MSX1
18 mammary gland epithelium development GO:0061180 9.77 MSX2 MSX1
19 positive regulation of mesenchymal cell apoptotic process GO:2001055 9.76 MSX2 MSX1
20 parathyroid gland development GO:0060017 9.73 TBX1 PAX1
21 embryonic nail plate morphogenesis GO:0035880 9.73 MSX2 MSX1
22 pharyngeal system development GO:0060037 9.73 TBX1 HOXA2 FGF8
23 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.63 MSX2 MSX1 FGF8
24 mesenchymal cell apoptotic process GO:0097152 9.43 TBX1 MSX2 MSX1
25 middle ear morphogenesis GO:0042474 9.23 TBX1 NKX3-2 MSX1 HOXA2

Molecular functions related to Craniofacial Microsomia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.11 HOXA2 MSX1 MSX2 MYT1 NKX3-2 OTX2
2 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.96 SALL1 NKX3-2 MSX2 MSX1 HOXA2
3 DNA binding GO:0003677 9.7 HOXA2 MSX1 MSX2 MYT1 NKX3-2 OTX2
4 sequence-specific double-stranded DNA binding GO:1990837 9.47 TBX1 PAX1 OTX2 NKX3-2 MSX2 MSX1

Sources for Craniofacial Microsomia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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