MCID: HMF006
MIFTS: 54

Hemifacial Microsomia malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Hemifacial Microsomia

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hemifacial Microsomia:

Name: Hemifacial Microsomia 52 11 48 24 54 12
Goldenhar Syndrome 11 48 24 54 39 13 68
First and Second Branchial Arch Syndrome 11 48 24
Otomandibular Dysostosis 11 24 54
Expanded Spectrum of Hemifacial Microsomia 48 54
Facioauriculovertebral Dysplasia 48 54
Oculoauriculovertebral Dysplasia 48 54
Oculoauriculovertebral Syndrome 48 54
Goldenhar Disease 48 27
Oav Dysplasia 48 54
 
Oavs 48 54
Goldenhar Syndrome with Ipsilateral Radial Defect 68
Facio-Auriculo-Vertebral Spectrum 11
Facioauriculovertebral Sequence 48
First Branchial Arch Syndrome 54
Laterofacial Microsomia 54
Otomandibular Syndrome 54
First Arch Syndrome 11
Oav Dysplasia 11
Fav Sequence 48

Characteristics:

Orphanet epidemiological data:

54
goldenhar syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy

HPO:

64
hemifacial microsomia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 164210
Disease Ontology11 DOID:2907
ICD1030 Q87.0
MeSH39 D006053
NCIt45 C84740
ICD10 via Orphanet31 Q87.0, Q75.8
MESH via Orphanet40 D006053
UMLS via Orphanet69 C0265240, C0432130

Summaries for Hemifacial Microsomia

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NIH Rare Diseases:48 Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine.  The main characteristics 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 of skull and face growth and development. Last updated: 4/23/2016

MalaCards based summary: Hemifacial Microsomia, also known as goldenhar syndrome, is related to hemifacial microsomia with radial defects and lateral facial dysplasia, and has symptoms including facial asymmetry, micrognathia and hearing impairment. An important gene associated with Hemifacial Microsomia is HFM (Hemifacial Microsomia), and among its related pathways is Transcriptional regulation of pluripotent stem cells. Affiliated tissues include eye, kidney and lung, and related mouse phenotypes are hearing/vestibular/ear and behavior/neurological.

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.

OMIM:52 Hemifacial microsomia is a common birth defect involving the first and second branchial arch derivatives. It typically... (164210) more...

Wikipedia:71 Hemifacial microsomia (HFM) is a congenital disorder that affects the development of the lower half of... more...

Related Diseases for Hemifacial Microsomia

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



Diseases related to hemifacial microsomia

Symptoms & Phenotypes for Hemifacial Microsomia

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Symptoms by clinical synopsis from OMIM:

164210

Clinical features from OMIM:

164210

Human phenotypes related to Hemifacial Microsomia:

 64 54 (show all 69)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial asymmetry64 54 hallmark (90%) Very frequent (99-80%) HP:0000324
2 micrognathia64 54 hallmark (90%) Frequent (79-30%) HP:0000347
3 hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000365
4 preauricular skin tag64 54 hallmark (90%) Very frequent (99-80%) HP:0000384
5 cleft palate64 54 typical (50%) Frequent (79-30%) HP:0000175
6 abnormality of the inner ear64 54 typical (50%) Frequent (79-30%) HP:0000359
7 low-set, posteriorly rotated ears64 54 typical (50%) Frequent (79-30%) HP:0000368
8 abnormality of the middle ear64 54 typical (50%) Frequent (79-30%) HP:0000370
9 atresia of the external auditory canal64 54 typical (50%) Frequent (79-30%) HP:0000413
10 epibulbar dermoid64 54 typical (50%) Frequent (79-30%) HP:0001140
11 neurological speech impairment64 54 typical (50%) Frequent (79-30%) HP:0002167
12 abnormal form of the vertebral bodies64 typical (50%) HP:0003312
13 non-midline cleft lip64 54 typical (50%) Frequent (79-30%) HP:0100335
14 wide mouth64 54 occasional (7.5%) Occasional (29-5%) HP:0000154
15 visual impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000505
16 abnormality of the pharynx64 54 occasional (7.5%) Occasional (29-5%) HP:0000600
17 cleft eyelid64 occasional (7.5%) HP:0000625
18 autism64 54 occasional (7.5%) Occasional (29-5%) HP:0000717
19 abnormality of the ribs64 54 occasional (7.5%) Occasional (29-5%) HP:0000772
20 muscular hypotonia64 54 occasional (7.5%) Occasional (29-5%) HP:0001252
21 laryngomalacia64 54 occasional (7.5%) Occasional (29-5%) HP:0001601
22 ventricular septal defect64 54 occasional (7.5%) Occasional (29-5%) HP:0001629
23 tetralogy of fallot64 54 occasional (7.5%) Occasional (29-5%) HP:0001636
24 ventriculomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0002119
25 cerebral cortical atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0002120
26 tracheoesophageal fistula64 54 occasional (7.5%) Occasional (29-5%) HP:0002575
27 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
28 tracheomalacia64 54 occasional (7.5%) Occasional (29-5%) HP:0002779
29 vertebral segmentation defect64 occasional (7.5%) HP:0003422
30 short stature64 54 occasional (7.5%) Occasional (29-5%) HP:0004322
31 aplasia/hypoplasia of the lungs64 occasional (7.5%) HP:0006703
32 aplasia/hypoplasia of the corpus callosum64 occasional (7.5%) HP:0007370
33 aplasia/hypoplasia affecting the eye64 occasional (7.5%) HP:0008056
34 renal hypoplasia/aplasia64 occasional (7.5%) HP:0008678
35 aplasia/hypoplasia of the thumb64 54 occasional (7.5%) Occasional (29-5%) HP:0009601
36 abnormal localization of kidney64 occasional (7.5%) HP:0100542
37 cognitive impairment64 occasional (7.5%) HP:0100543
38 multicystic kidney dysplasia64 HP:0000003
39 ureteropelvic junction obstruction64 HP:0000074
40 vesicoureteral reflux64 HP:0000076
41 ectopic kidney64 54 Occasional (29-5%) HP:0000086
42 renal agenesis64 54 Occasional (29-5%) HP:0000104
43 cleft upper lip64 HP:0000204
44 hydrocephalus64 HP:0000238
45 malar flattening64 54 Very frequent (99-80%) HP:0000272
46 hypoplasia of the maxilla64 54 Very frequent (99-80%) HP:0000327
47 conductive hearing impairment64 HP:0000405
48 sensorineural hearing impairment64 HP:0000407
49 strabismus64 HP:0000486
50 anophthalmia64 54 Occasional (29-5%) HP:0000528
51 microphthalmia64 54 Occasional (29-5%) HP:0000568
52 blepharophimosis64 HP:0000581
53 upper eyelid coloboma64 54 Occasional (29-5%) HP:0000636
54 intellectual disability64 54 Occasional (29-5%) HP:0001249
55 agenesis of corpus callosum64 54 Occasional (29-5%) HP:0001274
56 patent ductus arteriosus64 HP:0001643
57 coarctation of aorta64 HP:0001680
58 occipital encephalocele64 HP:0002085
59 pulmonary hypoplasia64 54 Occasional (29-5%) HP:0002089
60 arnold-chiari malformation64 HP:0002308
61 hemivertebrae64 54 Occasional (29-5%) HP:0002937
62 block vertebrae64 54 Frequent (79-30%) HP:0003305
63 hypoplasia of facial musculature64 HP:0004660
64 vertebral hypoplasia64 54 Frequent (79-30%) HP:0008417
65 microtia64 54 Frequent (79-30%) HP:0008551
66 unilateral external ear deformity64 54 Frequent (79-30%) HP:0008605
67 branchial anomaly64 HP:0009794
68 anotia64 HP:0009892
69 feeding difficulties in infancy54 Frequent (79-30%)

MGI Mouse Phenotypes related to Hemifacial Microsomia according to GeneCards Suite gene sharing:

41 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.7HOXA2, OTX2, SALL1, SALL4
2MP:00053868.4ALX3, HOXA2, OTX2, PTCH1, SALL1, SALL4
3MP:00036318.3ALX3, HOXA2, OTX2, PTCH1, SALL1, SALL4
4MP:00053718.1ALX3, FRAS1, PTCH1, SALL1, SALL4, SATB2
5MP:00053887.9ALX3, FRAS1, HOXA2, OTX2, PTCH1, SATB2
6MP:00053807.9ALX3, HOXA2, OTX2, PTCH1, SALL1, SALL4
7MP:00053857.8FRAS1, HOXA2, OTX2, PTCH1, SALL1, SALL4
8MP:00053847.8ALX3, FRAS1, HOXA2, OTX2, PTCH1, SALL1
9MP:00053917.7ALX3, FRAS1, OTX2, PTCH1, SALL4
10MP:00053827.6ALX3, FRAS1, HOXA2, OTX2, PTCH1, SALL4
11MP:00053817.3ALX3, FRAS1, HOXA2, OTX2, PTCH1, SALL1
12MP:00053787.2ALX3, FRAS1, HOXA2, OTX2, PTCH1, SALL1
13MP:00107687.2ALX3, FRAS1, HOXA2, OTX2, PTCH1, SALL1
14MP:00053907.1ALX3, FRAS1, HOXA2, OTX2, PTCH1, SALL1

Drugs & Therapeutics for Hemifacial Microsomia

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pregabalinapproved, illicit, investigationalPhase 4355148553-50-85486971
Synonyms:
(3S)-3-(aminomethyl)-5-methylhexanoic acid
(R-)-3-isobutyl GABA
(S)-3-(Aminomethyl)-5-methylhexanoic acid
(S)-3-Isobutyl gaba
(S+)-3-isobutyl GABA
121GE001
148553-50-8
3-Isobutyl gaba
3-isobutyl GABA
AC-1158
AC1NUP03
AKOS005145504
C080245
C8H17NO2
CHEBI:236161
CHEMBL1059
CI 1008
CI-1008
CID5486971
 
D02716
DB00230
FT-0080911
HSDB 7530
LS-75191
Lyrica
Lyrica (TN)
MolPort-000-861-733
PD 144723
PD-144723
Pregabalin
Pregabalin (JAN/USAN/INN)
Pregabalin [USAN]
Pregablin
S-(+)-3-isobutylgaba
S1731_Selleck
SBB062901
TL8001062
TOS-BB-0910
UNII-55JG375S6M
2Peripheral Nervous System AgentsPhase 422776
3Psychotropic DrugsPhase 46279
4Tranquilizing AgentsPhase 44164
5Central Nervous System DepressantsPhase 412806
6Calcium, DietaryPhase 45525
7Anti-Anxiety AgentsPhase 41816
8AnticonvulsantsPhase 42620
9calcium channel blockersPhase 41940
10AnalgesicsPhase 411287

Interventional clinical trials:

idNameStatusNCT IDPhase
1Examination of Pregabalin Access for Treatment of Indicated Pain Disorders: the ExPAND StudyTerminatedNCT01280747Phase 4
2Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative CellsCompletedNCT01674439Phase 2
3Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial DifferencesCompletedNCT00340964
4Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)RecruitingNCT02224677
5Natural History of Craniofacial Anomalies and Developmental Growth VariantsRecruitingNCT02639312
6Role of Mesenchymal Stem Cells in Fat GraftingNot yet recruitingNCT02494752

Search NIH Clinical Center for Hemifacial Microsomia


Cochrane evidence based reviews: goldenhar syndrome

Genetic Tests for Hemifacial Microsomia

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Genetic tests related to Hemifacial Microsomia:

id Genetic test Affiliating Genes
1 Goldenhar Syndrome27 24
2 First and Second Branchial Arch Syndrome24
3 Hemifacial Microsomia24
4 Otomandibular Dysostosis24

Anatomical Context for Hemifacial Microsomia

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MalaCards organs/tissues related to Hemifacial Microsomia:

36
Eye, Kidney, Lung, Heart, Trachea, Bone, Skin

Publications for Hemifacial Microsomia

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Articles related to Hemifacial Microsomia:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Implant-Retained Prosthetic Auricular Reconstruction in a Hemifacial Microsomia Individual: A Clinical Report. (28085981)
2017
2
Costochondral Graft in Young Children With Hemifacial Microsomia. (27922961)
2017
3
Bimaxillary Orthognathic Approach to Correct Skeletal Facial Asymmetry of Hemifacial Microsomia in Adults. (26908014)
2016
4
Clinico-Radiologic Perspective of a Case of Hemifacial Microsomia. (26894197)
2016
5
Computer-Assisted Distraction Osteogenesis in the Treatment of Hemifacial Microsomia. (27526230)
2016
6
A novel step osteotomy for correction of hemifacial microsomia - A case report. (27761391)
2016
7
Simultaneous maxillo-mandibular distraction in early adolescence as a single treatment modality for durable correction of type II unilateral hemifacial microsomia: Follow-up till completion of growth. (27499513)
2016
8
Application of free serratus anterior fascial flap for reconstruction of ear deformity due to hemifacial microsomia: A report of two cases. (27987254)
2016
9
Cleft characteristics and treatment outcomes in hemifacial microsomia compared to non-syndromic cleft lip/palate. (26775633)
2016
10
Relationship Between Mandibular Ramus Height and Masticatory Muscle Function in Patients With Unilateral Hemifacial Microsomia. (26752018)
2016
11
Parental Stress in Parents of a Child With Hemifacial Microsomia: The Role of Child Characteristics and Parental Coping Strategies. (27632763)
2016
12
Installing an original sleeve for rod unaccessible pain from a distraction device in a hemifacial microsomia patient. (26073915)
2015
13
The influence of gender and laterality on the incidence of hemifacial microsomia. (25723655)
2015
14
Three-dimensional functional unit analysis of hemifacial microsomia mandible-a preliminary report. (26413495)
2015
15
Hemifacial microsomia and lung hypoplasia. (25946776)
2015
16
Sequential treatment for a patient with hemifacial microsomia: 10 year-long term follow up. (25664313)
2015
17
A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations. (26294998)
2015
18
Cranial base deviation in hemifacial microsomia by craniometric analysis. (25569421)
2015
19
Precise positioning of an intraoral distractor using augmented reality in patients with hemifacial microsomia. (25465484)
2015
20
Combined maxillary and mandibular distractionA osteogenesis in patients with hemifacial microsomia. (25919102)
2015
21
Surgical guide assistant mandibular distraction osteogenesis and sagittal split osteotomy in the treatment of hemifacial microsomia. (25699536)
2015
22
Nonsurgical Treatment of Hemifacial Microsomia: A Case Report. (26734473)
2015
23
Mandibular deformity in hemifacial microsomia: a reassessment of the Pruzansky and Kaban classification. (25357063)
2014
24
Onlay bone grafting simultaneous with facial soft tissue augmentation in a hemifacial microsomia patient using de-epithelialized orthograde submental flap: a technical note. (24753799)
2014
25
Reply: mandibular deformity in hemifacial microsomia: a reassessment of the Pruzansky and Kaban classification. (25357064)
2014
26
Development of a morphing technique for predicting the position and size of an artificial ear in hemifacial microsomia patients. (25191888)
2014
27
Three-dimensional longitudinal changes in craniofacial growth in untreated hemifacial microsomia patients with cone-beam computed tomography. (24785922)
2014
28
Maxillary involvement in hemifacial microsomia: an objective three-dimensional analysis of the craniofacial skeleton. (25006903)
2014
29
Cephalometric outcomes of orthognathic surgery in hemifacial microsomia. (25203574)
2014
30
Cephalometric Outcomes of Orthognathic Surgery in Hemifacial Microsomia. (25072970)
2014
31
Frey's syndrome following total ear reconstruction in hemifacial microsomia. (24909627)
2014
32
OTX2 duplication is implicated in hemifacial microsomia. (24816892)
2014
33
Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry. (23794175)
2013
34
A de novo 1.38 Mb duplication of 1q31.1 in a boy with hemifacial microsomia, anophthalmia, anotia, macrostomia, and cleft lip and palate. (23312528)
2013
35
A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum? (22643051)
2013
36
Mandibular volumetric comparison of treacher collins syndrome and hemifacial microsomia. (22456406)
2012
37
Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome. (19923986)
2010
38
Isolated microtia as a marker for unsuspected hemifacial microsomia. (17938322)
2007
39
A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. (16411190)
2006
40
Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. (15287060)
2004
41
An optic nerve hypoplasia and coloboma in a patient with hemifacial microsomia. (15305536)
2004
42
Femoral-facial syndrome with hemifacial microsomia and hypoglossia. (15127766)
2004
43
Sliding type hernia and ectopic pancreatic tissue in the stomach with renal agenesis and ear abnormalities: branchio-oto-renal syndrome or hemifacial microsomia with additional findings. (12884440)
2003
44
Neurovascular free-muscle transfer to treat facial paralysis associated with hemifacial microsomia. (11964969)
2002
45
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. (11478532)
2001
46
Fibrous ankylosis after distraction osteogenesis of a costochondral neomandible in a patient with grade III hemifacial microsomia. (11572253)
2001
47
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. (11810276)
2001
48
A patient with VACTERL association, amelia and hemifacial microsomia. (10319203)
1999
49
Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome. (9823495)
1998
50
Facial asymmetries in hemifacial microsomia, Goldenhar syndrome, and Treacher Collins syndrome. (11873461)
1996

Variations for Hemifacial Microsomia

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Expression for genes affiliated with Hemifacial Microsomia

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Search GEO for disease gene expression data for Hemifacial Microsomia.

Pathways for genes affiliated with Hemifacial Microsomia

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8SALL1, SALL4

GO Terms for genes affiliated with Hemifacial Microsomia

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

idNameGO IDScoreTop Affiliating Genes
1heterochromatinGO:00007929.8SALL1, SALL4

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1osteoblast developmentGO:000207610.2HOXA2, SATB2
2somatic stem cell population maintenanceGO:003501910.1SALL1, SALL4
3branching involved in ureteric bud morphogenesisGO:000165810.1PTCH1, SALL1
4palate developmentGO:006002110.0FRAS1, SATB2
5neural tube closureGO:000184310.0PTCH1, SALL4
6cell fate determinationGO:00017099.9HOXA2, PTCH1
7dorsal/ventral pattern formationGO:00099539.9HOXA2, PTCH1
8negative regulation of osteoblast differentiationGO:00456689.9HOXA2, PTCH1
9regulation of smoothened signaling pathwayGO:00085899.8OTX2, PTCH1
10ventricular septum developmentGO:00032819.8SALL1, SALL4
11embryonic skeletal system morphogenesisGO:00487049.7ALX3, HOXA2, SATB2
12embryonic limb morphogenesisGO:00303269.4FRAS1, PTCH1, SALL4
13pattern specification processGO:00073899.4ALX3, HOXA2, PTCH1
14positive regulation of transcription from RNA polymerase II promoterGO:00459448.9HOXA2, OTX2, SALL1, SALL4, SATB2
15negative regulation of transcription from RNA polymerase II promoterGO:00001228.7HOXA2, PTCH1, SALL1, SALL4, SATB2

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.9HOXA2, OTX2, SALL1
2sequence-specific DNA bindingGO:00435658.3ALX3, HOXA2, SALL1, SALL4, SATB2

Sources for Hemifacial Microsomia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet