HFM
MCID: HMF006
MIFTS: 58

Hemifacial Microsomia (HFM)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Hemifacial Microsomia

MalaCards integrated aliases for Hemifacial Microsomia:

Name: Hemifacial Microsomia 57 12 76 53 59 13
Goldenhar Syndrome 57 12 76 53 59 29 44 15 73
Oculoauriculovertebral Dysplasia 57 53 59
Oav Dysplasia 57 53 59
Oavs 57 53 59
First and Second Branchial Arch Syndrome 12 53
Expanded Spectrum Hemifacial Microsomia 53 59
Oculo-Auriculo-Vertebral Dysplasia 76 53
Oculo-Auriculo-Vertebral Spectrum 76 53
Facioauriculovertebral Dysplasia 53 59
Facioauriculovertebral Sequence 57 53
Oculoauriculovertebral Syndrome 53 59
Otomandibular Dysostosis 12 59
Fav Sequence 57 53
Goldenhar Syndrome with Ipsilateral Radial Defect 73
Expanded Spectrum of Hemifacial Microsomia 53
Oculoauriculovertebral Spectrum; Oavs 57
Facio-Auriculo-Vertebral Spectrum 12
Oculoauriculovertebral Spectrum 57
First Branchial Arch Syndrome 59
Laterofacial Microsomia 59
Otomandibular Syndrome 59
Microsomia, Hemifacial 40
First Arch Syndrome 12
Goldenhar Disease 53
Oav Dysplasia 12
Oavd 53
Hfm 57

Characteristics:

Orphanet epidemiological data:

59
goldenhar syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
most cases are sporadic
discordant phenotype among monozygotic twins has been reported
abnormal morphogenesis of first and second branchial arches
estimated frequence 1/3000 to 1/5000
slight male predominance (3:2)
often unilateral involvement


HPO:

32
hemifacial microsomia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hemifacial Microsomia

NIH Rare Diseases : 53 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. Treatment is age-dependent, with interventions at appropriate stages during the growth and development of the skull and face.

MalaCards based summary : Hemifacial Microsomia, also known as goldenhar syndrome, is related to anus, imperforate and branchiootorenal syndrome. An important gene associated with Hemifacial Microsomia is HFM (Hemifacial Microsomia), and among its related pathways/superpathways is Transcriptional regulation of pluripotent stem cells. Affiliated tissues include eye, kidney and lung, and related phenotypes are malar flattening and agenesis of corpus callosum

OMIM : 57 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. (164210)

Wikipedia : 76 Goldenhar syndrome (also known as oculo-auriculo-vertebral (OAV) syndrome) is a rare congenital defect... more...

Related Diseases for Hemifacial Microsomia

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

(show top 50) (show all 115)
# Related Disease Score Top Affiliating Genes
1 anus, imperforate 30.3 SATB2 SALL1
2 branchiootorenal syndrome 30.3 SALL1 OTX2 HOXA2
3 townes-brocks syndrome 30.2 SALL4 SALL1
4 treacher collins syndrome 1 30.2 HOXA2 ALX3
5 renal hypodysplasia/aplasia 1 29.9 SALL1 HOXA2
6 hemifacial microsomia with radial defects 12.5
7 craniofacial microsomia 12.0
8 folate malabsorption, hereditary 12.0
9 vacterl association 11.7
10 short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities 11.5
11 klippel-feil syndrome 11.3
12 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.1
13 microtia-anotia 11.1
14 charge syndrome 10.4
15 facial paralysis 10.4
16 dysostosis 10.4
17 microtia 10.4
18 chromosome 10p duplication 10.3
19 hemifacial hyperplasia 10.3
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
21 cleft lip 10.3
22 autism 10.3
23 ichthyosis, x-linked 10.3
24 craniosynostosis 10.3
25 schizophreniform disorder 10.3
26 ichthyosis 10.3
27 myopathy 10.3
28 palatopharyngeal incompetence 10.2
29 fryns microphthalmia syndrome 10.2
30 ankylosis 10.2
31 neuropathy 10.2
32 sirenomelia 10.2
33 cleft lip/palate 10.2
34 holoprosencephaly 10.1
35 precocious puberty 10.1
36 duane-radial ray syndrome 10.1 SALL4 SALL1
37 acroosteolysis 10.1
38 ankyloglossia 10.1
39 cat eye syndrome 10.1
40 cleft palate, isolated 10.1
41 cri-du-chat syndrome 10.1
42 femoral-facial syndrome 10.1
43 solitary median maxillary central incisor 10.1
44 acrofacial dysostosis 1, nager type 10.1
45 optic nerve hypoplasia, bilateral 10.1
46 telecanthus 10.1
47 vater/vacterl association 10.1
48 cerebellar hypoplasia 10.1
49 hypomelanosis of ito 10.1
50 tooth size 10.1

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



Diseases related to Hemifacial Microsomia

Symptoms & Phenotypes for Hemifacial Microsomia

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
agenesis of corpus callosum
hydrocephalus
arnold-chiari malformation
occipital encephalocele
mental retardation
more
Head And Neck Mouth:
cleft palate
cleft lip
macrostomia
parotid agenesis
soft palate malfunction

Head And Neck Eyes:
strabismus
microphthalmia
blepharophimosis
epibulbar dermoid
anophthalmia
more
Genitourinary Ureters:
vesicoureteral reflux
ureteropelvic junction obstruction

Skeletal Spine:
hemivertebrae
block vertebrae
vertebral hypoplasia
vertebral anomalies

Head And Neck Neck:
branchial cleft remnant

Head And Neck Ears:
microtia
unilateral external ear deformity
anotia
hearing loss, conductive
preauricular tags
more
Genitourinary Kidneys:
ectopic kidney
renal agenesis
multicystic dysplastic kidney

Cardiovascular Vascular:
patent ductus arteriosus

Cardiovascular Heart:
tetralogy of fallot
ventricular septal defect
aortic coarctation

Head And Neck Face:
facial asymmetry
maxillary hypoplasia
mandibular hypoplasia
malar hypoplasia
small half of face
more
Respiratory Lung:
lung hypoplasia


Clinical features from OMIM:

164210

Human phenotypes related to Hemifacial Microsomia:

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 Very frequent (99-80%) HP:0000272
2 agenesis of corpus callosum 59 32 Occasional (29-5%) HP:0001274
3 intellectual disability 59 32 Occasional (29-5%) HP:0001249
4 microtia 59 32 Frequent (79-30%) HP:0008551
5 cleft palate 59 32 Frequent (79-30%) HP:0000175
6 micrognathia 59 32 Frequent (79-30%) HP:0000347
7 ectopic kidney 59 32 Occasional (29-5%) HP:0000086
8 wide mouth 59 32 Occasional (29-5%) HP:0000154
9 microphthalmia 59 32 Occasional (29-5%) HP:0000568
10 hypoplasia of the maxilla 59 32 Very frequent (99-80%) HP:0000327
11 tetralogy of fallot 59 32 Occasional (29-5%) HP:0001636
12 ventricular septal defect 59 32 Occasional (29-5%) HP:0001629
13 hemivertebrae 59 32 Occasional (29-5%) HP:0002937
14 preauricular skin tag 59 32 Very frequent (99-80%) HP:0000384
15 facial asymmetry 59 32 Very frequent (99-80%) HP:0000324
16 epibulbar dermoid 59 32 Frequent (79-30%) HP:0001140
17 atresia of the external auditory canal 59 32 Frequent (79-30%) HP:0000413
18 block vertebrae 59 32 Frequent (79-30%) HP:0003305
19 anophthalmia 59 32 Occasional (29-5%) HP:0000528
20 pulmonary hypoplasia 59 32 Occasional (29-5%) HP:0002089
21 renal agenesis 59 32 Occasional (29-5%) HP:0000104
22 upper eyelid coloboma 59 32 Occasional (29-5%) HP:0000636
23 vertebral hypoplasia 59 32 Frequent (79-30%) HP:0008417
24 unilateral external ear deformity 59 32 Frequent (79-30%) HP:0008605
25 hydrocephalus 32 HP:0000238
26 muscular hypotonia 59 Occasional (29-5%)
27 neurological speech impairment 59 Frequent (79-30%)
28 scoliosis 59 Occasional (29-5%)
29 hearing impairment 59 Very frequent (99-80%)
30 sensorineural hearing impairment 32 HP:0000407
31 visual impairment 59 Occasional (29-5%)
32 short stature 59 Occasional (29-5%)
33 feeding difficulties in infancy 59 Frequent (79-30%)
34 laryngomalacia 59 Occasional (29-5%)
35 strabismus 32 HP:0000486
36 patent ductus arteriosus 32 HP:0001643
37 autism 59 Occasional (29-5%)
38 coarctation of aorta 32 HP:0001680
39 ventriculomegaly 59 Occasional (29-5%)
40 cerebral cortical atrophy 59 Occasional (29-5%)
41 non-midline cleft lip 59 Frequent (79-30%)
42 arnold-chiari malformation 32 HP:0002308
43 multicystic kidney dysplasia 32 HP:0000003
44 low-set, posteriorly rotated ears 59 Frequent (79-30%)
45 conductive hearing impairment 32 HP:0000405
46 vesicoureteral reflux 32 HP:0000076
47 abnormality of the pharynx 59 Occasional (29-5%)
48 abnormality of the ribs 59 Occasional (29-5%)
49 blepharophimosis 32 HP:0000581
50 tracheoesophageal fistula 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Hemifacial Microsomia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.93 ALX3 HOXA2 OTX2 SALL1 SALL4 SATB2
2 digestive/alimentary MP:0005381 9.88 ALX3 HOXA2 OTX2 SALL1 SALL4 SATB2
3 embryo MP:0005380 9.85 ALX3 HOXA2 OTX2 SALL1 SALL4 SATB2
4 craniofacial MP:0005382 9.83 ALX3 HOXA2 OTX2 SALL4 SATB2
5 mortality/aging MP:0010768 9.7 ALX3 HOXA2 MYT1 OTX2 SALL1 SALL4
6 hearing/vestibular/ear MP:0005377 9.62 HOXA2 OTX2 SALL1 SALL4
7 limbs/digits/tail MP:0005371 9.56 ALX3 SALL1 SALL4 SATB2
8 nervous system MP:0003631 9.43 ALX3 HOXA2 OTX2 SALL1 SALL4 SATB2
9 skeleton MP:0005390 9.1 ALX3 HOXA2 OTX2 SALL1 SALL4 SATB2

Drugs & Therapeutics for Hemifacial Microsomia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells Completed NCT01674439 Phase 2
2 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Unknown status NCT02224677
3 Role of Mesenchymal Stem Cells in Fat Grafting Unknown status NCT02494752 Not Applicable
4 Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial Differences Completed NCT00340964
5 Fat Grafts With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children Recruiting NCT03806361 Not Applicable
6 Accuracy of a CAD/CAM Surgical Template for Mandible Distraction Recruiting NCT03270618 Not Applicable
7 Natural History of Craniofacial Anomalies and Developmental Growth Variants Recruiting NCT02639312
8 Comparison Between Internal and External Distractors in Osteogenesis Not yet recruiting NCT03540329 Not Applicable

Search NIH Clinical Center for Hemifacial Microsomia

Cochrane evidence based reviews: goldenhar syndrome

Genetic Tests for Hemifacial Microsomia

Genetic tests related to Hemifacial Microsomia:

# Genetic test Affiliating Genes
1 Goldenhar Syndrome 29

Anatomical Context for Hemifacial Microsomia

MalaCards organs/tissues related to Hemifacial Microsomia:

41
Eye, Kidney, Lung, Skin, Heart, Bone, Myeloid

Publications for Hemifacial Microsomia

Articles related to Hemifacial Microsomia:

(show top 50) (show all 557)
# Title Authors Year
1
Whole-exome sequencing for monozygotic twins discordant for hemifacial microsomia. ( 29551253 )
2018
2
Asymmetrically enlarged parietal foramina in a rare case of Goldenhar syndrome with a possible etiopathogenesis. ( 29416828 )
2018
3
Three-dimensional analysis of cranial base morphology in patients with hemifacial microsomia. ( 29292127 )
2018
4
Facial Paralysis in Patients With Hemifacial Microsomia: Frequency, Distribution, and Association With Other OMENS Abnormalities. ( 29771843 )
2018
5
One-Year Relapse of Mandibular Distraction for Hemifacial Microsomia Using Masseteric Botulinum Toxin Type A Injections. ( 29894467 )
2018
6
Reconstruction of the Adult Hemifacial Microsomia Patient with Temporomandibular Joint Total Joint Prosthesis and Orthognathic Surgery. ( 29736288 )
2018
7
Hemifacial microsomia (oculo-auriculo-vertebral spectrum) in an individual from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Italy). ( 29653314 )
2018
8
Temporomandibular Joint Ankylosis After Ramus Construction With Free Fibula Flaps in Children With Hemifacial Microsomia. ( 29852140 )
2018
9
Comprehensive consideration and design with the virtual surgical planning-assisted treatment for hemifacial microsomia in adult patients. ( 29887198 )
2018
10
Goldenhar syndrome with blepharophimosis and limb deformities: a case report. ( 30134872 )
2018
11
Incidents of Mandibular Distraction Osteogenesis for Hemifacial Microsomia. ( 30020235 )
2018
12
The accuracy of virtual-surgical-planning-assisted treatment of hemifacial microsomia in adult patients: distraction osteogenesis vs. orthognathic surgery. ( 30201164 )
2018
13
Etiology and Pathogenesis of Hemifacial Microsomia. ( 30205013 )
2018
14
Structural comparison of hemifacial microsomia mandible in different age groups by three-dimensional skeletal unit analysis. ( 30244962 )
2018
15
Discussion: Incidents of Mandibular Distraction Osteogenesis for Hemifacial Microsomia. ( 30252816 )
2018
16
Microtia Reconstruction in Hemifacial Microsomia Patients: Three Framework Coverage Techniques. ( 30489529 )
2018
17
Three-dimensional evaluation of facial asymmetry in patients with hemifacial microsomia using stereophotogrammetry. ( 30527381 )
2018
18
Quantitative Evaluation of Cephalometric Radiographs of Patients With Hemifacial Microsomia. ( 30537849 )
2018
19
Salvage or Solution: Alloplastic Reconstruction in Hemifacial Microsomia. ( 30543122 )
2018
20
Microphthalmia, corneal dermoids, and congenital anomalies resembling Goldenhar syndrome in a cat. ( 29346049 )
2018
21
Growth-Friendly Surgery Is Effective at Treating Early-Onset Scoliosis Associated With Goldenhar Syndrome. ( 29735145 )
2018
22
Role of cone-beam computed tomography with a large field of view in Goldenhar syndrome. ( 29407505 )
2018
23
Efficacy and Non Invasive Treatment of Sialorrhea in the Goldenhar Syndrome. ( 29595115 )
2018
24
Goldenhar syndrome (oculo-auriculo-vertebral spectrum): Findings on cone beam computed tomography-3 case reports. ( 29857980 )
2018
25
Goldenhar Syndrome - ophthalmologist's perspective. ( 30206552 )
2018
26
Simultaneous maxillomandibular distraction osteogenesis in hemifacial microsomia: Report of 7 cases. ( 28706792 )
2017
27
Reconstruction of nongrowing hemifacial microsomia patient with custom-made unilateral temporomandibular joint total joint prosthesis and orthognathic surgery. ( 28316925 )
2017
28
An integrated surgical protocol for adult patients with hemifacial microsomia: Methods and outcome. ( 28783745 )
2017
29
Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia. ( 28319315 )
2017
30
Effects of unilateral vertical mandibular distraction osteogenesis on airway anatomy in children with hemifacial microsomia. ( 29126770 )
2017
31
Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual Association. ( 28377826 )
2017
32
Early Orthopaedic Treatment of Hemifacial Microsomia. ( 29387494 )
2017
33
Hemifacial Microsomia and Accessory Auricles in an Adolescent Boy. ( 28400648 )
2017
34
Surgical correction of mandibular hypoplasia in hemifacial microsomia: A retrospective study in 39 patients. ( 28457824 )
2017
35
Microsurgical SCIA/SIEA flap for facial contour correction in patient with hemifacial microsomia. ( 28604380 )
2017
36
Auricular Reconstruction in Hemifacial Microsomia with an Expanded Two-Flap Method. ( 28445373 )
2017
37
Hemifacial Microsomia : Clinicoradiological Insight and Report of a Case. ( 28458495 )
2017
38
Implant-Retained Prosthetic Auricular Reconstruction in a Hemifacial Microsomia Individual: A Clinical Report. ( 28085981 )
2017
39
Costochondral Graft in Young Children With Hemifacial Microsomia. ( 27922961 )
2017
40
Hemifacial Microsomia in a Cat. ( 28718994 )
2017
41
Combined Bimaxillary Distraction Osteogenesis Associated with Orthognathic Surgery for Hemifacial Microsomia in Adults. ( 28233131 )
2017
42
Goldenhar syndrome: Cardiac anesthesiologist's perspective. ( 28074825 )
2017
43
Anaesthesia and orphan disease: Difficult ventilation following intubation in Goldenhar syndrome. ( 28141737 )
2017
44
Anaesthetic Management in a Child with Goldenhar Syndrome. ( 28302228 )
2017
45
Severe Obstructive Sleep Apnea in a Child With Goldenhar Syndrome and Nasal Obstruction. ( 28356172 )
2017
46
Pitfalls of stenting coarctation of an angulated right circumflex aortic arch in Goldenhar syndrome. ( 28566829 )
2017
47
A Constellation of Rare Findings in a Case of Goldenhar Syndrome. ( 28607792 )
2017
48
Goldenhar syndrome: current perspectives. ( 28623555 )
2017
49
Rare presentation of bilobed posterior tongue in Goldenhar syndrome. ( 28765181 )
2017
50
Modification of Dentofacial Growth Associated with Goldenhar Syndrome. ( 29042703 )
2017

Variations for Hemifacial Microsomia

Expression for Hemifacial Microsomia

Search GEO for disease gene expression data for Hemifacial Microsomia.

Pathways for Hemifacial Microsomia

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.31 SALL1 SALL4

GO Terms for Hemifacial Microsomia

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.56 ALX3 BRF1 HOXA2 MYT1 OTX2 SALL1
2 heterochromatin GO:0000792 8.62 SALL1 SALL4

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.72 ALX3 HOXA2 MYT1 OTX2 SATB2
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.65 HOXA2 MYT1 SALL1 SALL4 SATB2
3 pattern specification process GO:0007389 9.46 ALX3 HOXA2
4 somatic stem cell population maintenance GO:0035019 9.43 SALL1 SALL4
5 positive regulation of transcription by RNA polymerase II GO:0045944 9.43 HOXA2 MYT1 OTX2 SALL1 SALL4 SATB2
6 ventricular septum development GO:0003281 9.4 SALL1 SALL4
7 osteoblast development GO:0002076 9.37 HOXA2 SATB2
8 embryonic skeletal system morphogenesis GO:0048704 9.33 ALX3 HOXA2 SATB2
9 regulation of transcription, DNA-templated GO:0006355 9.17 ALX3 BRF1 HOXA2 MYT1 OTX2 SALL1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.67 HOXA2 MYT1 OTX2 SALL1
2 sequence-specific DNA binding GO:0043565 9.62 ALX3 HOXA2 OTX2 SATB2
3 DNA binding GO:0003677 9.5 ALX3 HOXA2 MYT1 OTX2 SALL1 SALL4
4 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.46 HOXA2 OTX2 SALL1 SATB2
5 proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001078 9.43 HOXA2 MYT1 SALL1
6 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.17 ALX3 HOXA2 MYT1 OTX2 SALL1 SALL4

Sources for Hemifacial Microsomia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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