MCID: HMF006
MIFTS: 50

Hemifacial Microsomia malady

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

Summaries for Hemifacial Microsomia

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OMIM:45 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 dysostosis and microsomia hemifacial radial defects, and has symptoms including facial asymmetry, micrognathia and hearing impairment. An important gene associated with Hemifacial Microsomia is SALL1 (spalt-like transcription factor 1). The compound zinc have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and lung, and related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

Disease Ontology:9 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:41 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

Wikipedia:63 Hemifacial microsomia is a congenital disorder that affects the development of the lower half of the... more...

Aliases & Classifications for Hemifacial Microsomia

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 11DISEASES, 60UMLS, 22GTR, 55SNOMED-CT, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Hemifacial Microsomia, Aliases & Descriptions:

Name: Hemifacial Microsomia 45 9 10 41 20 47
Goldenhar Syndrome 9 41 11 47 60
Otomandibular Dysostosis 9 41 20 47
First and Second Branchial Arch Syndrome 9 41 20
Goldenhar Disease 41 20 22
Expanded Spectrum of Hemifacial Microsomia 41 47
Oculo-Auriculo-Vertebral Spectrum 41 20
Oculoauriculovertebral Dysplasia 41 47
Facioauriculovertebral Dysplasia 41 47
Oculoauriculovertebral Syndrome 41 47
Oculoauriculovertebral Spectrum 41 47
First Branchial Arch Syndrome 41 47
Laterofacial Microsomia 41 47
Otomandibular Syndrome 41 47
 
Oav Dysplasia 41 47
Oavs 41 47
Unilateral or Bilateral and Asymmetric Otomandibular Dysplasia 41
Goldenhar Syndrome with Ipsilateral Radial Defect 60
Oculo-Auriculo-Vertebral Dysplasia 41
Facio-Auriculo-Vertebral Spectrum 9
Facioauriculovertebral Sequence 41
Craniofacial Microsomia 41
First Arch Syndrome 9
Oav Dysplasia 9
Fav Sequence 41
Oav Spectrum 41
Oavd 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
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:

OMIM45 164210
Disease Ontology9 DOID:2907
NCIt38 C84740
Orphanet47 374, 141136
MESH via Orphanet34 D006053
ICD10 via Orphanet26 Q87.0, Q75.8
UMLS via Orphanet61 C0265240, C0432130

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 for Hemifacial Microsomia

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Symptoms by clinical synopsis from OMIM:

164210

Clinical features from OMIM:

164210

Symptoms:

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

Drugs & Therapeutics for Hemifacial Microsomia

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Drug clinical trials:

Search ClinicalTrials for Hemifacial Microsomia

Search NIH Clinical Center for Hemifacial Microsomia

Genetic Tests for Hemifacial Microsomia

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Genetic tests related to Hemifacial Microsomia:

id Genetic test Affiliating Genes
1 Goldenhar Syndrome20 22
2 First and Second Branchial Arch Syndrome20
3 Otomandibular Dysostosis20
4 Oculo-Auriculo-Vertebral Spectrum20
5 Hemifacial Microsomia20

Anatomical Context for Hemifacial Microsomia

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MalaCards organs/tissues related to Hemifacial Microsomia:

31
Eye, Kidney, Lung, Heart, Trachea, Bone, Skin

Animal Models for Hemifacial Microsomia or affiliated genes

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MGI Mouse Phenotypes related to Hemifacial Microsomia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.3SALL1, SALL4
2MP:00053779.0SALL1, SALL4

Publications for Hemifacial Microsomia

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Articles related to Hemifacial Microsomia:

(show all 28)
idTitleAuthorsYear
1
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
2
A fetus with hemifacial microsomia and sirenomelia. The same mesodermal defect spectrum? (22643051)
2013
3
Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry. (23794175)
2013
4
Mandibular volumetric comparison of treacher collins syndrome and hemifacial microsomia. (22456406)
2012
5
Large distal 5p deletion with hemifacial microsomia and absence of cri-du-chat syndrome. (19923986)
2010
6
Isolated microtia as a marker for unsuspected hemifacial microsomia. (17938322)
2007
7
A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. (16411190)
2006
8
An optic nerve hypoplasia and coloboma in a patient with hemifacial microsomia. (15305536)
2004
9
Femoral-facial syndrome with hemifacial microsomia and hypoglossia. (15127766)
2004
10
Prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum. (15287060)
2004
11
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
12
Neurovascular free-muscle transfer to treat facial paralysis associated with hemifacial microsomia. (11964969)
2002
13
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
14
Fibrous ankylosis after distraction osteogenesis of a costochondral neomandible in a patient with grade III hemifacial microsomia. (11572253)
2001
15
Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. (11810276)
2001
16
A patient with VACTERL association, amelia and hemifacial microsomia. (10319203)
1999
17
Hemifacial microsomia in a newborn with hypoplastic skin lesions, an eyelid skin tag, and microphthalmia: an unusual presentation of Delleman syndrome. (9823495)
1998
18
Facial asymmetries in hemifacial microsomia, Goldenhar syndrome, and Treacher Collins syndrome. (11873461)
1996
19
Interrelationships of the hemifacial microsomia-VATER, VATER, and sirenomelia phenotypes. (8368258)
1993
20
Association between "plagiocephaly" and hemifacial microsomia. (8291557)
1993
21
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
22
Dysmorphogenesis of the mandible, zygoma, and middle ear ossicles in hemifacial microsomia and mandibulofacial dysostosis. (2705480)
1989
23
Microtia: a microform of hemifacial microsomia. (4070453)
1985
24
Hemifacial microsomia associated with congenital partial gigantism. (6653913)
1983
25
A comparison of microtia and temporal bone anomalies in hemifacial microsomia and mandibulofacial dysostosis. (6929227)
1980
26
Goldenhar syndrome and hemifacial microsomia: observations on three patients. (7389743)
1980
27
Lateral facial dysplasia (first and second branchial arch syndrome, hemifacial microsomia). (1212511)
1975
28
Hemifacial microsomia (dysostosis otomandibularis). (4534109)
1974

Variations for Hemifacial Microsomia

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Clinvar genetic disease variations for Hemifacial Microsomia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SALL1NM_002968.2(SALL1): c.1256T> A (p.Leu419Ter)single nucleotide variantPathogenicrs137853084GRCh37Chr 16, 51174877: 51174877

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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Compounds for genes affiliated with Hemifacial Microsomia

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Sources:
43Novoseek, 24HMDB
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Compounds related to Hemifacial Microsomia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1zinc43 2410.3SALL1, 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:00007929.3SALL1, SALL4

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

idNameGO IDScoreTop Affiliating Genes
1ventricular septum developmentGO:00032819.3SALL1, SALL4
2positive regulation of transcription from RNA polymerase II promoterGO:00459449.3SALL1, SALL4
3neural tube closureGO:00018439.2SALL1, SALL4
4negative regulation of transcription from RNA polymerase II promoterGO:00001229.0SALL1, SALL4

Products for genes affiliated with Hemifacial Microsomia

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Sources for Hemifacial Microsomia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet