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 ectopic/horseshoe/fused kidneys, agenesis/hypoplasia/aplasia of kidneys and ventricular septal defect/interventricular communication. 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)
  • ectopic/horseshoe/fused kidneys
  • agenesis/hypoplasia/aplasia of kidneys
  • ventricular septal defect/interventricular communication
  • tetralogy of fallot/trilogy of fallot
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • tracheomalacia/tracheobronchomalacia
  • laryngomalacia
  • 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
  • micrognathia/retrognathia/micrognathism/retrognathism
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • anomaly of the pharynx/pharyngeal anomaly
  • external auditory canal atresia/stenosis/agenesis
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • low set ears/posteriorly rotated ears
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • conjunctival tumor/epibulbar dermoid
  • tags on cheeks
  • hearing loss/hypoacusia/deafness
  • preauricular/branchial tags/appendages
  • hypoplastic mandibula/partial absence of the mandibula
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • thumb hypoplasia/aplasia/absence
  • vertebral segmentation anomaly/hemivertebrae
  • scoliosis
  • anomalies of the ribs
  • macrostomia/big mouth
  • coloboma of the eyelid
  • visual loss/blindness/amblyopia
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • abnormal vertebral size/shape
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy

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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Sources:
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, Tongue, Myeloid, Pons

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
Goldenhar syndrome and medulloblastoma: A coincidental association? The first case report. (23953647)
2013
2
Dorsal radiocarpal dislocation in a patient with Goldenhar syndrome: case report. (24426941)
2013
3
An unusual association of Goldenhar syndrome. (23053767)
2013
4
First description of unilateral lung agenesis and anomalous pulmonary venous connection in a newborn with Goldenhar syndrome. (22309948)
2012
5
Congenital salivary fistula of an accessory parotid gland in Goldenhar syndrome. (22032683)
2012
6
Combination of laryngeal mask airway and pediatric Boussignac bougie for difficult tracheal intubation in a newborn with Goldenhar syndrome. (22910640)
2012
7
Successful airway management in a patient with Goldenhar syndrome using preoperative three-dimensional computed tomography. (21826818)
2011
8
Use of awake oral fibreoptic intubation (AFOI) for caesarian section in a woman with Goldenhar Syndrome: a case report. (21962463)
2011
9
Pulmonary hypoplasia in a newborn with Goldenhar syndrome. (20006771)
2010
10
Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome. (20571379)
2010
11
Epicorneal polypoidal lipodermoid: lack of association of central corneal lesions with goldenhar syndrome verified with a review of the literature. (19783022)
2010
12
Goldenhar syndrome in an infant of diabetic mother. (23056696)
2010
13
Goldenhar syndrome: clinical features with orofacial emphasis. (21308299)
2010
14
Craniofacial features in Goldenhar syndrome. (19736507)
2009
15
Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1. (19213029)
2009
16
Radiological evidence of Goldenhar syndrome in a paleopathological case from a South German ossuary. (18996519)
2008
17
Goldenhar syndrome with unusual features. (18583796)
2008
18
Airway management in a patient with Goldenhar syndrome: a case report. (18502367)
2008
19
Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome. (17297623)
2007
20
Goldenhar syndrome in association with agenesia of the internal carotid artery. (17161873)
2007
21
31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings. (18019368)
2007
22
Atypical goldenhar syndrome: a case report. (17315807)
2006
23
Goldenhar syndrome (oculoauriculovertebral dysplasia): report of one case. (17078468)
2006
24
Goldenhar syndrome with various clinical manifestations. (16986988)
2006
25
Monozygotic twins discordant for Goldenhar syndrome. (16532152)
2006
26
Clinical manifestations in 17 Greek patients with Goldenhar syndrome. (17100205)
2006
27
Increased arterial distensibility and renovascular hypertension in Goldenhar syndrome. (15880254)
2005
28
Goldenhar syndrome: a case report and literature review. (15909718)
2005
29
General anesthesia for a child with Goldenhar syndrome. (15910358)
2005
30
Goldenhar syndrome: a case from Papua New Guinea. (14746598)
2004
31
Goldenhar syndrome and neuroblastoma: a chance association? (14632345)
2003
32
Goldenhar syndrome associated with various cardiovascular malformations. (9741741)
1998
33
Goldenhar syndrome with situs inversus totalis. (9804208)
1998
34
Goldenhar syndrome among infants born in military hospitals to Gulf War veterans. (9408975)
1997
35
Goldenhar syndrome (oculo-auriculo-vertebral dysplasia): report of two cases. (7555892)
1995
36
Fibreoptic intubation via a laryngeal mask in an infant with Goldenhar syndrome. (8669621)
1995
37
Rare associations with Goldenhar syndrome. (7883328)
1994
38
Cervicovertebral anomalies and basilar impression in Goldenhar syndrome. (8115504)
1994
39
Goldenhar syndrome with tetralogy of Fallot. (8314279)
1993
40
Imaging of lipoma of the corpus callosum and intracranial dermoids in the Goldenhar syndrome. (3277142)
1988
41
IVF and Goldenhar syndrome. (3681913)
1987
42
Fetal abnormality (Goldenhar syndrome) occurring in one of triplet infants derived from in vitro fertilization with possible monozygotic twinning. (3160797)
1985
43
The Goldenhar syndrome: diagnosis and early surgical management. (6379547)
1984
44
Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome. (6662905)
1983
45
Autosomal dominant Goldenhar syndrome. (7171780)
1982
46
Goldenhar syndrome (oculo-auriculo-vertebral dysplasia) in new born. (7343493)
1981
47
Goldenhar syndrome: a case report with review of literature. (604401)
1977
48
The Goldenhar syndrome: a natural history. (890116)
1977
49
A case of Goldenhar syndrome associated with an inguinal hernia and extensive renal, ureteric, and bladder abnormalities. (1072809)
1976
50
Cardiovascular malformations in oculoauriculovertebral dysplasia (Goldenhar syndrome). (4421472)
1974

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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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