MCID: HMF006
MIFTS: 55

Hemifacial Microsomia malady

Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Hemifacial Microsomia

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 12DISEASES, 65UMLS, 36MeSH, 24GTR, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Hemifacial Microsomia:

Name: Hemifacial Microsomia 49 10 11 45 22 51
Goldenhar Syndrome 10 45 12 51 65 36
First and Second Branchial Arch Syndrome 10 45 22
Otomandibular Dysostosis 10 22 51
Goldenhar Disease 45 22 24
Goldenhar Syndrome with Ipsilateral Radial Defect 65
Expanded Spectrum of Hemifacial Microsomia 51
Facio-Auriculo-Vertebral Spectrum 10
Oculoauriculovertebral Dysplasia 51
Facioauriculovertebral Dysplasia 51
Facioauriculovertebral Sequence 45
 
Oculoauriculovertebral Syndrome 51
First Branchial Arch Syndrome 51
Craniofacial Microsomia 45
Laterofacial Microsomia 51
Otomandibular Syndrome 51
First Arch Syndrome 10
Oav Dysplasia 10
Oav Dysplasia 51
Fav Sequence 45
Oavs 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
goldenhar syndrome:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 164210
Disease Ontology10 DOID:2907
NCIt42 C84740
Orphanet51 374, 141136
ICD10 via Orphanet28 Q87.0, Q75.8
MESH via Orphanet37 D006053
UMLS via Orphanet66 C0265240, C0432130

Summaries for Hemifacial Microsomia

About this section
OMIM:49 Hemifacial microsomia is a common birth defect involving the first and second branchial arch derivatives. It typically... (164210) more...

MalaCards based summary: Hemifacial Microsomia, also known as goldenhar syndrome, is related to renovascular hypertension and treacher collins syndrome 1, and has symptoms including facial asymmetry, micrognathia and hearing impairment. An important gene associated with Hemifacial Microsomia is HFM (Hemifacial Microsomia). Affiliated tissues include eye, kidney and lung, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

Disease Ontology:10 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.

NIH Rare Diseases:45 Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear and spine. affected individuals commonly have 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 facial structure, heart, lungs, kidneys, and central nervous system. the underlying cause of the condition remains unknown. last updated: 11/9/2010

Related Diseases for Hemifacial Microsomia

About this section

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



Diseases related to hemifacial microsomia

Symptoms for Hemifacial Microsomia

About this section

Symptoms by clinical synopsis from OMIM:

164210

Clinical features from OMIM:

164210

Symptoms:

 51 (show all 44)
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • hypoplastic mandibula/partial absence of the mandibula
  • preauricular/branchial tags/appendages
  • hearing loss/hypoacusia/deafness
  • tags on cheeks
  • micrognathia/retrognathia/micrognathism/retrognathism
  • conjunctival tumor/epibulbar dermoid
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • low set ears/posteriorly rotated ears
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • external auditory canal atresia/stenosis/agenesis
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • abnormal vertebral size/shape
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • visual loss/blindness/amblyopia
  • coloboma of the eyelid
  • macrostomia/big mouth
  • anomalies of the ribs
  • scoliosis
  • vertebral segmentation anomaly/hemivertebrae
  • thumb hypoplasia/aplasia/absence
  • anomaly of the pharynx/pharyngeal anomaly
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • laryngomalacia
  • tracheomalacia/tracheobronchomalacia
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • tetralogy of fallot/trilogy of fallot
  • ventricular septal defect/interventricular communication
  • agenesis/hypoplasia/aplasia of kidneys
  • ectopic/horseshoe/fused kidneys
  • dilated cerebral ventricles without hydrocephaly
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • corpus callosum/septum pellucidum total/partial agenesis
  • hypotonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autism/autistic disoders
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism

HPO human phenotypes related to Hemifacial Microsomia:

(show all 80)
id Description Frequency HPO Source Accession
1 facial asymmetry hallmark (90%) HP:0000324
2 micrognathia hallmark (90%) HP:0000347
3 hearing impairment hallmark (90%) HP:0000365
4 preauricular skin tag hallmark (90%) HP:0000384
5 cleft palate typical (50%) HP:0000175
6 micrognathia typical (50%) HP:0000347
7 abnormality of the inner ear typical (50%) HP:0000359
8 low-set, posteriorly rotated ears typical (50%) HP:0000368
9 abnormality of the middle ear typical (50%) HP:0000370
10 preauricular skin tag typical (50%) HP:0000384
11 atresia of the external auditory canal typical (50%) HP:0000413
12 epibulbar dermoid typical (50%) HP:0001140
13 neurological speech impairment typical (50%) HP:0002167
14 abnormal form of the vertebral bodies typical (50%) HP:0003312
15 non-midline cleft lip typical (50%) HP:0100335
16 wide mouth occasional (7.5%) HP:0000154
17 visual impairment occasional (7.5%) HP:0000505
18 abnormality of the pharynx occasional (7.5%) HP:0000600
19 cleft eyelid occasional (7.5%) HP:0000625
20 autism occasional (7.5%) HP:0000717
21 abnormality of the ribs occasional (7.5%) HP:0000772
22 muscular hypotonia occasional (7.5%) HP:0001252
23 laryngomalacia occasional (7.5%) HP:0001601
24 ventricular septal defect occasional (7.5%) HP:0001629
25 tetralogy of fallot occasional (7.5%) HP:0001636
26 ventriculomegaly occasional (7.5%) HP:0002119
27 cerebral cortical atrophy occasional (7.5%) HP:0002120
28 tracheoesophageal fistula occasional (7.5%) HP:0002575
29 scoliosis occasional (7.5%) HP:0002650
30 tracheomalacia occasional (7.5%) HP:0002779
31 vertebral segmentation defect occasional (7.5%) HP:0003422
32 short stature occasional (7.5%) HP:0004322
33 aplasia/hypoplasia of the lungs occasional (7.5%) HP:0006703
34 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
35 aplasia/hypoplasia affecting the eye occasional (7.5%) HP:0008056
36 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
37 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
38 abnormal localization of kidney occasional (7.5%) HP:0100542
39 cognitive impairment occasional (7.5%) HP:0100543
40 multicystic kidney dysplasia HP:0000003
41 autosomal dominant inheritance HP:0000006
42 ureteropelvic junction obstruction HP:0000074
43 vesicoureteral reflux HP:0000076
44 ectopic kidney HP:0000086
45 renal agenesis HP:0000104
46 wide mouth HP:0000154
47 cleft palate HP:0000175
48 cleft upper lip HP:0000204
49 hydrocephalus HP:0000238
50 malar flattening HP:0000272
51 facial asymmetry HP:0000324
52 hypoplasia of the maxilla HP:0000327
53 micrognathia HP:0000347
54 preauricular skin tag HP:0000384
55 conductive hearing impairment HP:0000405
56 sensorineural hearing impairment HP:0000407
57 atresia of the external auditory canal HP:0000413
58 strabismus HP:0000486
59 anophthalmia HP:0000528
60 microphthalmos HP:0000568
61 blepharophimosis HP:0000581
62 upper eyelid coloboma HP:0000636
63 epibulbar dermoid HP:0001140
64 intellectual disability HP:0001249
65 agenesis of corpus callosum HP:0001274
66 ventricular septal defect HP:0001629
67 tetralogy of fallot HP:0001636
68 patent ductus arteriosus HP:0001643
69 coarctation of aorta HP:0001680
70 occipital encephalocele HP:0002085
71 pulmonary hypoplasia HP:0002089
72 arnold-chiari malformation HP:0002308
73 hemivertebrae HP:0002937
74 block vertebrae HP:0003305
75 hypoplasia of facial musculature HP:0004660
76 vertebral hypoplasia HP:0008417
77 microtia HP:0008551
78 unilateral external ear deformity HP:0008605
79 branchial anomaly HP:0009794
80 anotia HP:0009892

Drugs & Therapeutics for Hemifacial Microsomia

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Pregabalinapproved, illicit, investigationalPhase 4327148553-50-85486971
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
2Calcium, DietaryPhase 43529

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
5Role 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

About this section

Genetic tests related to Hemifacial Microsomia:

id Genetic test Affiliating Genes
1 First and Second Branchial Arch Syndrome22
2 Goldenhar Syndrome22 24
3 Hemifacial Microsomia22
4 Otomandibular Dysostosis22

Anatomical Context for Hemifacial Microsomia

About this section

MalaCards organs/tissues related to Hemifacial Microsomia:

33
Eye, Kidney, Lung, Heart, Bone, Skin

Animal Models for Hemifacial Microsomia or affiliated genes

About this section

MGI Mouse Phenotypes related to Hemifacial Microsomia:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6ALX3, FRAS1, SALL1, SALL4
2MP:00053778.6HOXA2, OTX2, SALL1, SALL4, TCOF1
3MP:00053858.1FRAS1, HOXA2, OTX2, SALL1, SALL4
4MP:00053908.0ALX3, HOXA2, OTX2, SALL1, SALL4, TCOF1
5MP:00053807.8ALX3, HOXA2, OTX2, SALL1, SALL4, TCOF1
6MP:00053917.7ALX3, FRAS1, OTX2, SALL4, TCOF1
7MP:00053787.6ALX3, HOXA2, OTX2, SALL1, SALL4, TCOF1
8MP:00036317.6ALX3, HOXA2, OTX2, SALL1, SALL4, TCOF1
9MP:00053827.5ALX3, FRAS1, HOXA2, OTX2, SALL4, TCOF1
10MP:00053887.4ALX3, FRAS1, HOXA2, OTX2, TCOF1
11MP:00053817.1ALX3, FRAS1, HOXA2, OTX2, SALL1, SALL4
12MP:00053847.0ALX3, FRAS1, HOXA2, OTX2, SALL1, SALL4
13MP:00107686.9ALX3, FRAS1, HOXA2, OTX2, SALL1, SALL4

Publications for Hemifacial Microsomia

About this section

Articles related to Hemifacial Microsomia:

(show all 48)
idTitleAuthorsYear
1
Installing an original sleeve for rod unaccessible pain from a distraction device in a hemifacial microsomia patient. (26073915)
2015
2
The influence of gender and laterality on the incidence of hemifacial microsomia. (25723655)
2015
3
Sequential treatment for a patient with hemifacial microsomia: 10 year-long term follow up. (25664313)
2015
4
A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations. (26294998)
2015
5
Cranial base deviation in hemifacial microsomia by craniometric analysis. (25569421)
2015
6
Three-dimensional functional unit analysis of hemifacial microsomia mandible-a preliminary report. (26413495)
2015
7
Hemifacial microsomia and lung hypoplasia. (25946776)
2015
8
Precise positioning of an intraoral distractor using augmented reality in patients with hemifacial microsomia. (25465484)
2015
9
Combined maxillary and mandibular distractionA osteogenesis in patients with hemifacial microsomia. (25919102)
2015
10
Surgical guide assistant mandibular distraction osteogenesis and sagittal split osteotomy in the treatment of hemifacial microsomia. (25699536)
2015
11
Mandibular deformity in hemifacial microsomia: a reassessment of the Pruzansky and Kaban classification. (25357063)
2014
12
Cephalometric outcomes of orthognathic surgery in hemifacial microsomia. (25203574)
2014
13
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
14
Cephalometric Outcomes of Orthognathic Surgery in Hemifacial Microsomia. (25072970)
2014
15
Reply: mandibular deformity in hemifacial microsomia: a reassessment of the Pruzansky and Kaban classification. (25357064)
2014
16
Development of a morphing technique for predicting the position and size of an artificial ear in hemifacial microsomia patients. (25191888)
2014
17
Three-dimensional longitudinal changes in craniofacial growth in untreated hemifacial microsomia patients with cone-beam computed tomography. (24785922)
2014
18
Frey's syndrome following total ear reconstruction in hemifacial microsomia. (24909627)
2014
19
Maxillary involvement in hemifacial microsomia: an objective three-dimensional analysis of the craniofacial skeleton. (25006903)
2014
20
OTX2 duplication is implicated in hemifacial microsomia. (24816892)
2014
21
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
22
A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum? (22643051)
2013
23
Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry. (23794175)
2013
24
Mandibular volumetric comparison of treacher collins syndrome and hemifacial microsomia. (22456406)
2012
25
Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome. (19923986)
2010
26
Isolated microtia as a marker for unsuspected hemifacial microsomia. (17938322)
2007
27
A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. (16411190)
2006
28
An optic nerve hypoplasia and coloboma in a patient with hemifacial microsomia. (15305536)
2004
29
Femoral-facial syndrome with hemifacial microsomia and hypoglossia. (15127766)
2004
30
Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. (15287060)
2004
31
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
32
Neurovascular free-muscle transfer to treat facial paralysis associated with hemifacial microsomia. (11964969)
2002
33
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
34
Fibrous ankylosis after distraction osteogenesis of a costochondral neomandible in a patient with grade III hemifacial microsomia. (11572253)
2001
35
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. (11810276)
2001
36
A patient with VACTERL association, amelia and hemifacial microsomia. (10319203)
1999
37
Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome. (9823495)
1998
38
Facial asymmetries in hemifacial microsomia, Goldenhar syndrome, and Treacher Collins syndrome. (11873461)
1996
39
Interrelationships of the hemifacial microsomia-VATER, VATER, and sirenomelia phenotypes. (8368258)
1993
40
Association between "plagiocephaly" and hemifacial microsomia. (8291557)
1993
41
Mandibulofacial dysostosis or bilateral hemifacial microsomia with hearing loss, telecanthus, tetramelic postaxial hexadactyly, congenital hypotonia and lymphedema with joint hypermobility, and pigmentary dysplasia: a new syndrome? (2556918)
1989
42
Dysmorphogenesis of the mandible, zygoma, and middle ear ossicles in hemifacial microsomia and mandibulofacial dysostosis. (2705480)
1989
43
Microtia: a microform of hemifacial microsomia. (4070453)
1985
44
Hemifacial microsomia associated with congenital partial gigantism. (6653913)
1983
45
A comparison of microtia and temporal bone anomalies in hemifacial microsomia and mandibulofacial dysostosis. (6929227)
1980
46
Goldenhar syndrome and hemifacial microsomia: observations on three patients. (7389743)
1980
47
Lateral facial dysplasia (first and second branchial arch syndrome, hemifacial microsomia). (1212511)
1975
48
Hemifacial microsomia (dysostosis otomandibularis). (4534109)
1974

Variations for Hemifacial Microsomia

About this section

Expression for genes affiliated with Hemifacial Microsomia

About this section
Search GEO for disease gene expression data for Hemifacial Microsomia.

Pathways for genes affiliated with Hemifacial Microsomia

About this section

GO Terms for genes affiliated with Hemifacial Microsomia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1heterochromatinGO:00007929.7SALL1, SALL4

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1neural tube developmentGO:002191510.2SALL1, SALL4
2dorsal/ventral pattern formationGO:000995310.0HOXA2, OTX2
3cell fate commitmentGO:004516510.0HOXA2, OTX2
4ventricular septum developmentGO:00032819.9SALL1, SALL4
5anterior/posterior pattern specificationGO:00099529.8HOXA2, OTX2
6neural tube closureGO:00018439.8SALL1, SALL4
7pattern specification processGO:00073899.7ALX3, HOXA2
8embryonic skeletal system morphogenesisGO:00487049.7ALX3, HOXA2
9embryonic limb morphogenesisGO:00303269.4FRAS1, SALL4
10positive regulation of transcription from RNA polymerase II promoterGO:00459448.7HOXA2, OTX2, SALL1, SALL4

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

idNameGO IDScoreTop Affiliating Genes
1transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:000107810.0HOXA2, SALL1
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.5HOXA2, OTX2, SALL1
3transcription factor activity, sequence-specific DNA bindingGO:00037008.4HOXA2, OTX2, SALL1, SALL4
4sequence-specific DNA bindingGO:00435658.1ALX3, HOXA2, OTX2, SALL1, SALL4
5DNA bindingGO:00036778.0ALX3, HOXA2, OTX2, SALL1, SALL4

Sources for Hemifacial Microsomia

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet