OAVS
MCID: GLD001
MIFTS: 57

Goldenhar Syndrome (OAVS) malady

Eye, Ear, Bone, Fetal categories

Summaries for Goldenhar Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 low set ears/posteriorly rotated ears, autosomal recessive inheritance and cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy. 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 skin, tongue and lung, 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:64 Goldenhar syndrome (also known as Oculo-Auriculo-Vertebral (OAV) syndrome) is a rare congenital defect... more...

Description from OMIM:47 164210

Aliases & Classifications for Goldenhar Syndrome

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
goldenhar syndrome:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

goldenhar syndrome 8 43 10 49 61
hemifacial microsomia 8 9 43 20 47 49
first and second branchial arch syndrome 8 43 20
otomandibular dysostosis 8 20 49
goldenhar disease 43 20 22
oculo-auriculo-vertebral spectrum 20 49
oculoauriculovertebral dysplasia 43 49
oculoauriculovertebral spectrum 43 49
craniofacial microsomia 43 49
unilateral or bilateral and asymmetric otomandibular dysplasia 49
facio-auriculo-vertebral spectrum 8
facioauriculovertebral dysplasia 49
facioauriculovertebral sequence 43
oculoauriculovertebral syndrome 49
first branchial arch syndrome 49
fetal growth retardation 61
laterofacial microsomia 49
otomandibular syndrome 49
first arch syndrome 8
oav dysplasia 8
oav dysplasia 49
fav sequence 43
oav spectrum 49
oavs 49


External Ids:

Disease Ontology8 DOID:2907
OMIM47 164210
NCIt40 C84740
MESH via Orphanet36 D006053
ICD10 via Orphanet26 Q87.0, Q75.8
SNOMED-CT via Orphanet58 15557005, 205418005, 254026007 367462009, 254025006, more
UMLS via Orphanet62 C0265240, C0432130

Related Diseases for Goldenhar Syndrome

Sources:
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

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

164210

Symptoms:

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

Drugs & Therapeutics for Goldenhar Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Goldenhar Syndrome

Drug clinical trials:

Search ClinicalTrials for Goldenhar Syndrome

Search NIH Clinical Center for Goldenhar Syndrome

Search CenterWatch for Goldenhar Syndrome

Genetic Tests for Goldenhar Syndrome

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
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MalaCards organs/tissues related to Goldenhar Syndrome:

33
Skin, Tongue, Lung, Heart, Salivary gland, Myeloid, Pons, Fetal lung

Animal Models for Goldenhar Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Goldenhar Syndrome:

37 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0ZIC3, EYA1, SALL1, MECOM, NKX3-2, TCOF1
2MP:00053918.9MSX2, TCOF1, GALNS, NDST1, EYA1, ZIC3
3MP:00053718.8KLF10, ZIC3, SALL1, MECOM, NKX3-2, OCLN
4MP:00053888.5ZIC3, EYA1, NDST1, MECOM, NKX3-2, TCOF1
5MP:00053808.5ZIC3, EYA1, SALL1, MECOM, NKX3-2, NCOA1
6MP:00053798.4EYA1, NDST1, NKX3-2, NCOA1, OCLN, VRK1
7MP:00028738.4ZIC3, EYA1, SALL1, MECOM, NKX3-2, NCOA1
8MP:00053818.3ZIC3, EYA1, NDST1, SALL1, NKX3-2, OCLN
9MP:00053828.2COX6A1, ZIC3, EYA1, NDST1, MECOM, NKX3-2
10MP:00053678.2EYA1, SALL1, GALNS, NCOA1, GPX7, ESRRG
11MP:00036317.7ZIC3, EYA1, NDST1, SALL1, MECOM, NKX3-2
12MP:00053877.6ZIC3, EYA1, NDST1, MECOM, NKX3-2, NCOA1
13MP:00053907.5MSX2, KLF10, ZIC3, EYA1, NDST1, SALL1
14MP:00053867.4COX6A1, ZIC3, EYA1, SALL1, MECOM, NCOA1
15MP:00053787.3COX6A1, ZIC3, SALL1, MECOM, NKX3-2, NCOA1
16MP:00053847.2SALL1, NDST1, EYA1, KLF10, GALNS, MECOM
17MP:00107686.7SALL1, NDST1, EYA1, ZIC3, COX6A1, MECOM

Publications for Goldenhar Syndrome

Sources:
51PubMed
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Articles related to Goldenhar Syndrome:

(show top 50)    (show all 163)
idTitleAuthorsYear
1
Goldenhar syndrome and medulloblastoma: A coincidental association? The first case report. (23953647)
2013
2
A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome-OMIM%164210. (24024059)
2013
3
An unusual association of Goldenhar syndrome. (23053767)
2013
4
A rare case of Goldenhar syndrome with radial aplasia. (24402760)
2013
5
Congenital salivary fistula of an accessory parotid gland in Goldenhar syndrome. (22032683)
2012
6
Intrauterine death of a child with Goldenhar syndrome: a case presentation and review of the literature. (22481494)
2012
7
Goldenhar syndrome. (22828557)
2012
8
Successful airway management in a patient with Goldenhar syndrome using preoperative three-dimensional computed tomography. (21826818)
2011
9
Microvascular free flaps for mandibular reconstruction in Goldenhar syndrome. (21586979)
2011
10
Craniofacial and dental characteristics of Goldenhar syndrome: a report of two cases. (21467824)
2011
11
Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome. (20571379)
2010
12
Epicorneal polypoidal lipodermoid: lack of association of central corneal lesions with goldenhar syndrome verified with a review of the literature. (19783022)
2010
13
Facio-auriculo-vertebro-cephalic spectrum of Goldenhar syndrome. (20228488)
2010
14
Craniofacial features in Goldenhar syndrome. (19736507)
2009
15
Goldenhar syndrome with unusual association of pre-axial polydactyly. (19882566)
2009
16
Treatment of otological features of the oculoauriculovertebral dysplasia (Goldenhar syndrome). (19203801)
2009
17
Radiological evidence of Goldenhar syndrome in a paleopathological case from a South German ossuary. (18996519)
2008
18
Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome. (18629884)
2008
19
Airway management using the pediatric GlideScope in a child with Goldenhar syndrome and atypical plasma cholinesterase. (17474957)
2007
20
Atypical goldenhar syndrome: a case report. (17315807)
2006
21
Two cases of Goldenhar syndrome. (16598979)
2006
22
Increased arterial distensibility and renovascular hypertension in Goldenhar syndrome. (15880254)
2005
23
Multiple accessory tragi as a clue to the diagnosis of the oculo-auriculo-vertebral (Goldenhar) syndrome. (14726857)
2004
24
Language, articulation, voice and resonance characteristics in 4 children with Goldenhar syndrome: a pilot study. (15087569)
2004
25
Goldenhar syndrome and neuroblastoma: a chance association? (14632345)
2003
26
Letter to the editor: acute myeloid leukemia in a child with Goldenhar syndrome. (11984812)
2002
27
Goldenhar syndrome with congenital athyrosis. (11752744)
2001
28
A theory on the embryogenesis of oculo-auriculo-vertebral (Goldenhar) syndrome. (11314495)
2000
29
Mesenchymal chondrosarcoma associated with Goldenhar's syndrome. (10447638)
1999
30
Oculo-auriculo-vertebral spectrum disorder (Goldenhar "syndrome") coexisting with schizophreniform disorder. (9667580)
1998
31
Goldenhar syndrome associated with various cardiovascular malformations. (9741741)
1998
32
Left retrocaval ureter associated with the Goldenhar syndrome (branchial arch syndrome). (9224364)
1997
33
Goldenhar syndrome. (9492426)
1997
34
Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. (8669439)
1996
35
Goldenhar syndrome with multiple additional anomalies. (8828307)
1996
36
Syringomyelia as a complication of Goldenhar syndrome. (8816291)
1996
37
Fibreoptic intubation via a laryngeal mask in an infant with Goldenhar syndrome. (8669621)
1995
38
Rare associations with Goldenhar syndrome. (7883328)
1994
39
Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome). (1442880)
1992
40
Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome--a case report. (1452286)
1992
41
IVF and Goldenhar syndrome. (3681913)
1987
42
"Goldenhar syndrome"--association with congenital hemihypertrophy. (3693273)
1987
43
Fetal abnormality (Goldenhar syndrome) occurring in one of triplet infants derived from in vitro fertilization with possible monozygotic twinning. (3160797)
1985
44
Cranial defects in the Goldenhar syndrome. (6859095)
1983
45
Goldenhar syndrome (oculo-auriculo-vertebral dysplasia) in new born. (7343493)
1981
46
Goldenhar syndrome and hemifacial microsomia: observations on three patients. (7389743)
1980
47
Corneal ulcers associated with Goldenhar syndrome. (336860)
1977
48
A case of Goldenhar syndrome associated with an inguinal hernia and extensive renal, ureteric, and bladder abnormalities. (1072809)
1976
49
Orbital dermo-lipoma with Goldenhar's syndrome and exophthalmos. (5358527)
1969
50
Combination of Goldenhar's syndrome with the Cri-Du-Chat syndrome. (4974461)
1968

Genetic Variations for Goldenhar Syndrome

Expression for genes affiliated with Goldenhar Syndrome

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

Search GEO for disease gene expression data for Goldenhar Syndrome.

Pathways for genes affiliated with Goldenhar Syndrome

Compounds for genes affiliated with Goldenhar Syndrome

Sources:
45Novoseek
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Compounds related to Goldenhar Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1bisphenol a459.6ESRRG, NCOA1

GO Terms for genes affiliated with Goldenhar Syndrome

Sources:
16Gene Ontology
See all sources

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet