OAVS
MCID: GLD001
MIFTS: 65

Goldenhar Syndrome (OAVS) malady

Eye diseases, Ear diseases, Bone diseases, Fetal diseases categories

Summaries for Goldenhar Syndrome

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Hemifacial microsomia is a condition in which the lower half of one side of the face is underdeveloped and does not grow normally. the eye, cheek and neck may also be affected.this is the second most common facial birth defect after clefts. it is sometimes also referred to as first and second brachial arch syndrome, oral-mandibular-auricular syndrome, lateral facial dysplasia, or otomandibular dysostosis. the syndrome varies in severity, but always includes the maldevelopment of the ear and the mandible. goldenhar syndrome is one type of hemifacial microsomia and mainly affects the development of the eye, ear and spine. last updated: 8/8/2013

MalaCards: Goldenhar Syndrome, also known as hemifacial microsomia, is related to imperforate anus and renal agenesis, and has symptoms including facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy, ventricular septal defect/interventricular communication and anomaly of the pharynx/pharyngeal anomaly. An important gene associated with Goldenhar Syndrome is HFM (Hemifacial microsomia). The compound bisphenol a have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

Disease Ontology:8 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.

Wikipedia:63 Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral (OAV) syndrome) is a rare congenital defect... more...

Description from OMIM:46 164210

Aliases & Classifications for Goldenhar Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Ear diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

48
goldenhar syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

goldenhar syndrome 8 42 10 48 60
hemifacial microsomia 8 9 42 20 46 48
first and second branchial arch syndrome 8 42 20
otomandibular dysostosis 8 20 48
goldenhar disease 42 20 22
oculo-auriculo-vertebral spectrum 20 48
oculoauriculovertebral dysplasia 42 48
oculoauriculovertebral spectrum 42 48
craniofacial microsomia 42 48
unilateral or bilateral and asymmetric otomandibular dysplasia 48
facio-auriculo-vertebral spectrum 8
facioauriculovertebral dysplasia 48
facioauriculovertebral sequence 42
oculoauriculovertebral syndrome 48
first branchial arch syndrome 48
fetal growth retardation 60
laterofacial microsomia 48
otomandibular syndrome 48
first arch syndrome 8
oav dysplasia 8
oav dysplasia 48
fav sequence 42
oav spectrum 48
oavs 48


External Ids:

Disease Ontology8 DOID:2907
OMIM46 164210
NCIt39 C84740
MESH via Orphanet35 D006053
ICD10 via Orphanet26 Q87.0, Q75.8
SNOMED-CT via Orphanet57 15557005, 205418005, 254026007 367462009, 254025006, more
UMLS via Orphanet61 C0265240, C0432130

Related Diseases for Goldenhar Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Goldenhar Syndrome:



Diseases related to goldenhar syndrome

Clinical Features for Goldenhar Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

164210

Symptoms:

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

Drugs & Therapeutics for Goldenhar Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Goldenhar Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Goldenhar Syndrome:

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 Goldenhar Syndrome

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32MalaCards
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MalaCards organs/tissues related to Goldenhar Syndrome:

32
Eye, Skin, Bone, Kidney, Lung, Heart, Pons, Tongue, Myeloid

Animal Models for Goldenhar Syndrome or affiliated genes

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36MGI
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Publications for Goldenhar Syndrome

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50PubMed
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Articles related to Goldenhar Syndrome:

(show top 50)    (show all 153)
idTitleAuthorsYear
1
Treatment strategy in goldenhar syndrome. (24406574)
2014
2
A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome-OMIM%164210. (24024059)
2013
3
Axillary block as the sole anesthetic for peripherally inserted central catheter placement in an infant with goldenhar syndrome. (24371529)
2013
4
In vivo confocal microscopy in goldenhar syndrome: a case report. (24131730)
2013
5
Goldenhar syndrome. (23852257)
2013
6
Retrograde intubation: a rare case of goldenhar syndrome posted for posterior fossa surgery in the sitting position. (23715043)
2013
7
Odontostomatological aspects in patients with goldenhar syndrome: a series of 9 patients. (24217685)
2013
8
Goldenhar syndrome: a new case expanding the phenotype by costal agenesis and pulmonary hypoplasia. (23047519)
2012
9
Case report: airway and concurrent hemodynamic management in a neonate with oculo-auriculo-vertebral (Goldenhar) syndrome, severe cervical scoliosis, interrupted aortic arch, multiple ventricular septal defects, and an unstable cervical spine. (22834469)
2012
10
Airway management for rigid bronchoscopy via a freshly performed tracheostomy in a child with Goldenhar syndrome. (22495086)
2012
11
Goldenhar syndrome: a cause of secondary immunodeficiency? (22747588)
2012
12
Airway management using the ProSeal laryngeal mask airway in a child with Goldenhar syndrome. (22696887)
2012
13
Accessory tragus: a possible sign of Goldenhar syndrome. (21916271)
2011
14
Downbeat nystagmus as the sole sign of Chiari malformation in goldenhar syndrome. (20128560)
2010
15
Goldenhar syndrome: ocular features. (21305808)
2010
16
A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: is this a candidate region for the syndrome? (18553512)
2008
17
Goldenhar syndrome with duodenal atresia: a new finding. (18388789)
2008
18
A review of physical, behavioral, and oral characteristics associated with Treacher Collins syndrome, Goldenhar syndrome, and Angelman syndrome. (18683396)
2008
19
Goldenhar syndrome associated with growth hormone deficiency. (18618991)
2008
20
Goldenhar syndrome and intubation with the fiberoptic broncoscope. (18613937)
2008
21
Prenatal sonographic imaging of Goldenhar syndrome associated with cystic eye. (18382997)
2008
22
Distraction osteogenesis in Goldenhar Syndrome: case report and 8-year follow-up. (17978778)
2007
23
Posterior fossa dermoid cyst in a patient with Goldenhar syndrome. (17992045)
2007
24
Hepatoblastoma in a patient with Goldenhar syndrome born to a diabetic mother. (17103459)
2006
25
Vertebral anomalies associated with Goldenhar syndrome. (16357779)
2005
26
Portal vein cavernoma associated with goldenhar syndrome. (16132000)
2005
27
Trigeminal nerve hypoplasia and aplasia in children with goldenhar syndrome and corneal hypoesthesia. (15838455)
2005
28
Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia. (15770127)
2005
29
Spinal anomalies in Goldenhar syndrome. (16149827)
2005
30
Language, articulation, voice and resonance characteristics in 4 children with Goldenhar syndrome: a pilot study. (15087569)
2004
31
Goldenhar Syndrome with H type tracheo esophageal fistula. (12824675)
2003
32
Goldenhar syndrome and hereditary tyrosinemia type 1. (12518207)
2002
33
Letter to the editor: acute myeloid leukemia in a child with Goldenhar syndrome. (11984812)
2002
34
A theory on the embryogenesis of oculo-auriculo-vertebral (Goldenhar) syndrome. (11314495)
2000
35
Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome? (10893666)
2000
36
Goldenhar syndrome with rare associations. (10838727)
2000
37
Goldenhar syndrome with unusual features. (20921638)
1999
38
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. (8669439)
1996
39
Early prenatal diagnosis of oculoauriculovertebral dysplasia or the Goldenhar syndrome. (9014284)
1996
40
Goldenhar syndrome and autistic behaviour. (1426690)
1992
41
Laryngeal manifestations of Goldenhar syndrome. (1285565)
1992
42
Prenatal sonographic diagnosis of lipoma of the corpus callosum in a fetus with Goldenhar syndrome. (2006948)
1991
43
Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy. (3681908)
1987
44
Goldenhar syndrome (oculo-auriculo-vertebral dysplasia) in a twin new born baby. (3744465)
1986
45
Goldenhar syndrome, anterior encephalocele, and aqueductal stenosis following fetal primidone exposure. (4035586)
1985
46
Goldenhar syndrome (a case report). (4087222)
1985
47
Goldenhar syndrome (oculo-auriculo-vertebral dysplasia) in new born. (7343493)
1981
48
Goldenhar syndrome. Associated with submandibular gland hyperplasia and hemihypoplasia of the mobile tongue. (1267727)
1976
49
Probably monozygotic twins with discordance for Goldenhar syndrome. (4829428)
1974
50
Goldenhar syndrome. (4789118)
1973

Genetic Variations for Goldenhar Syndrome

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Expression for genes affiliated with Goldenhar Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Goldenhar Syndrome

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Pathways for genes affiliated with Goldenhar Syndrome

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Compounds for genes affiliated with Goldenhar Syndrome

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44Novoseek
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Compounds related to Goldenhar Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1bisphenol a449.6ESRRG, NCOA1

GO Terms for genes affiliated with Goldenhar Syndrome

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16Gene Ontology
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Biological processes related to Goldenhar Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:04247310.1SALL1, EYA1
2embryonic hindlimb morphogenesisGO:0351169.8MSX2, MECOM
3skeletal system developmentGO:0015019.7TCOF1, NKX3-2, KLF10
4middle ear morphogenesisGO:0424749.7NKX3-2, EYA1
5positive regulation of transcription from RNA polymerase II promoterGO:0459449.0ZIC3, EYA1, SALL1, MECOM, NCOA1
6positive regulation of transcription, DNA-dependentGO:0458938.9ESRRG, NCOA1, MECOM, SALL1, ZIC3

Products for genes affiliated with Goldenhar Syndrome

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  • Proteins
  • Lysates
  • Antibodies

Sources for Goldenhar Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet