MCID: HMF006
MIFTS: 51

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:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 12DISEASES, 36MeSH, 65UMLS, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hemifacial Microsomia:

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

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

HPO:

61
hemifacial microsomia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 164210
Disease Ontology10 DOID:2907
ICD1027 Q87.0
MeSH36 D006053
NCIt42 C84740
Orphanet51 374, 141136
ICD10 via Orphanet28 Q87.0, Q75.8
MESH via Orphanet37 D006053
UMLS via Orphanet66 C0265240, C0432130
UMLS65 C0265240, C0220681

Summaries for Hemifacial Microsomia

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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.  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 craniofacial microsomia and microsomia hemifacial radial defects, and has symptoms including preauricular skin tag, hearing impairment and micrognathia. 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 limbs/digits/tail and vision/eye.

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.

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

Wikipedia:68 Hemifacial microsomia is a congenital disorder that affects the development of the lower half of the... 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 for Hemifacial Microsomia

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

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 4340148553-50-85486971
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 418510
3Psychotropic DrugsPhase 45501
4Tranquilizing AgentsPhase 43597
5Central Nervous System DepressantsPhase 410016
6Calcium, DietaryPhase 44678
7Anti-Anxiety AgentsPhase 41529
8AnticonvulsantsPhase 42249
9calcium channel blockersPhase 41743
10AnalgesicsPhase 49358

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 First and Second Branchial Arch Syndrome22
2 Goldenhar Syndrome22
3 Hemifacial Microsomia22
4 Otomandibular Dysostosis22

Anatomical Context for Hemifacial Microsomia

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MalaCards organs/tissues related to Hemifacial Microsomia:

33
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:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5ALX3, FRAS1, SALL1, SALL4, SATB2
2MP:00053918.1ALX3, FRAS1, OTX2, SALL4, TCOF1
3MP:00036317.8ALX3, HOXA2, OTX2, SALL1, SALL4, TCOF1
4MP:00053777.8HOXA2, OTX2, SALL1, SALL4, TCOF1
5MP:00053857.6FRAS1, HOXA2, OTX2, SALL1, SALL4, SATB2
6MP:00053887.5ALX3, FRAS1, HOXA2, OTX2, SATB2, TCOF1
7MP:00053807.5ALX3, HOXA2, OTX2, SALL1, SALL4, SATB2
8MP:00053847.2ALX3, FRAS1, HOXA2, OTX2, SALL1, SALL4
9MP:00053826.9ALX3, FRAS1, HOXA2, OTX2, SALL4, SATB2
10MP:00053816.7ALX3, FRAS1, HOXA2, OTX2, SALL1, SALL4
11MP:00107686.5ALX3, FRAS1, HOXA2, OTX2, SALL1, SALL4
12MP:00053786.4ALX3, FRAS1, HOXA2, OTX2, SALL1, SALL4
13MP:00053906.4ALX3, FRAS1, HOXA2, OTX2, SALL1, SALL4

Publications for Hemifacial Microsomia

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Articles related to Hemifacial Microsomia:

(show all 48)
idTitleAuthorsYear
1
Clinical outcome of neurofibromatosis type 2-related vestibular schwannoma: treatment strategies and challenges. (27142681)
2016
2
Successful laparoscopic common bile duct exploration in a patient with factor V deficiency, a case report and review of literature. (26550406)
2015
3
Cadmium exposure and age-related macular degeneration. (25388812)
2014
4
Treatment of refractory diabetic gastroparesis: Western medicine and traditional Chinese medicine therapies. (24914371)
2014
5
Immunochip SNP array identifies novel genetic variants conferring susceptibility to candidaemia. (25197941)
2014
6
ROCK1 as a novel prognostic marker in vulvar cancer. (25380619)
2014
7
Tumor necrosis factor induces tumor promoting and anti-tumoral effects on pancreatic cancer via TNFR1. (24098720)
2013
8
Posterior reversible encephalopathy syndrome as the first presentation of chronic kidney disease. (24342863)
2013
9
Correlation between the expression of Id-1 and hyperthermia-associated molecules in oral squamous cell carcinoma. (23723304)
2013
10
Alcohol septal ablation for obstructive hypertrophic cardiomyopathy: outcomes in young, middle-aged, and elderly patients. (22936613)
2013
11
A phenomics-based strategy identifies loci on APOC1, BRAP, and PLCG1 associated with metabolic syndrome phenotype domains. (22022282)
2011
12
Risk factors and outcomes of Guillain-BarrAc syndrome with acute myelitis. (21215910)
2011
13
Crystal structure of the human histone methyltransferase ASH1L catalytic domain and its implications for the regulatory mechanism. (21239497)
2011
14
Polysomnography as a diagnosis and post-treatment follow-up tool in human African trypanosomiasis: a case study in an infant. (21470639)
2011
15
An epidemiological investigation of a multisource outbreak of Crimean-Congo hemorrhagic fever in Gujarat. (23781628)
2011
16
Is cerebrospinal fluid shunting in idiopathic intracranial hypertension worthwhile? A 10-year review. (21968519)
2011
17
Superficial granulomatous pyoderma: a case in an 11-year-old girl and review of the literature. (21182640)
2010
18
BTG2 antagonizes Pin1 in response to mitogens and telomere disruption during replicative senescence. (20569234)
2010
19
Structure-dependent inhibition of human and rat 11beta-hydroxysteroid dehydrogenase 2 activities by phthalates. (19786001)
2010
20
Surgical outcomes of the modified single-patch technique in complete atrioventricular septal defect. (19181697)
2009
21
Continuous glucose monitoring in patients with insulinoma. (18088393)
2008
22
Mycobacterium malmoense and underlying lung disease. (19013363)
2008
23
Parallel activation of de novo lipogenesis and stearoyl-CoA desaturase activity after 3 d of high-carbohydrate feeding. (18400702)
2008
24
The regulation of adipogenesis through GPR120. (17250804)
2007
25
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. (16644365)
2006
26
Retinoic acid induces leukemia cell G1 arrest and transition into differentiation by inhibiting cyclin-dependent kinase-activating kinase binding and phosphorylation of PML/RARalpha. (16935935)
2006
27
A molecular classification of papillary renal cell carcinoma. (15994935)
2005
28
Effect of exogenous carbon monoxide on sequestration of polymorphonuclear neutrophils in the lung following limb ischemia-reperfusion: an experimental study]. (16313778)
2005
29
Rhabdomyolysis in a patient with acute intermittent porphyria. (15298749)
2004
30
Cdx2 as a marker for neuroendocrine tumors of unknown primary sites. (15640551)
2004
31
Aldosterone in the development and progression of renal injury. (15200407)
2004
32
Suppression of thermotolerance in mumps virus-infected cells is caused by lack of HSP27 induction contributed by STAT-1. (12917439)
2003
33
Histamine regulation of interleukin-18-initiating cytokine cascade is associated with down-regulation of intercellular adhesion molecule-1 expression in human peripheral blood mononuclear cells. (11752121)
2002
34
Still more thoughts on ovarian remnant syndrome. (11918262)
2002
35
Prediction of endometriosis with serum and peritoneal fluid markers: a prospective controlled trial. (11821289)
2002
36
Synthesis of influenza neuraminidase inhibitors. (11899618)
2001
37
Multiple transcripts coding for the menkes gene: evidence for alternative splicing of Menkes mRNA. (9693104)
1998
38
Use of an enrichment broth cultivation-PCR combination assay for rapid diagnosis of swine erysipelas. (9431926)
1998
39
Murine T-lymphocytes express vasoactive intestinal peptide receptor 1 (VIP-R1) mRNA. (8784267)
1996
40
Ex vivo human placental transfer of human immunodeficiency virus-1 p24 antigen. (7856681)
1995
41
Paracrine regulation of adipose differentiation by arachidonate metabolites: prostaglandin F2 alpha inhibits early and late markers of differentiation in the adipogenic cell line 1246. (1446597)
1992
42
Fluoxetine treatment of voyeurism. (2053642)
1991
43
A role for endogenous arachidonate metabolites in the regulated expression of the 25-hydroxyvitamin D-1-hydroxylation reaction in cultured alveolar macrophages from patients with sarcoidosis. (2106525)
1990
44
Hydranencephaly and maximal hydrocephalus: usefulness of electrophysiological studies for their differentiation. (2715606)
1989
45
Bleeding and vulvovaginitis in the pediatric age group. (3308254)
1987
46
Development of experimental models for meningeal neoplasia using intrathecal injection of 9L gliosarcoma and Walker 256 carcinosarcoma in the rat. (3753551)
1986
47
Prune belly syndrome associated with Hirschsprung's disease. (35974)
1979
48
Preliminary results in the long-term local treatment of tinea pedis with Pimafucin. (5315233)
1971

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

idNameGO IDScoreTop Affiliating Genes
1ventricular septum developmentGO:000328110.2SALL1, SALL4
2somatic stem cell population maintenanceGO:00350199.9SALL1, SALL4
3osteoblast developmentGO:00020769.9HOXA2, SATB2
4pattern specification processGO:00073899.7ALX3, HOXA2
5embryonic skeletal system morphogenesisGO:00487049.4ALX3, HOXA2, SATB2
6positive regulation of transcription from RNA polymerase II promoterGO:00459448.8OTX2, SALL1, SALL4, SATB2

Sources for Hemifacial Microsomia

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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