Goldenhar syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: GOLDENHAR SYNDROME
FACIOAURICULOVERTEBRAL SEQUENCE
FAV SEQUENCE
HFM
OAVS
oav dysplasia
Oculoauriculovertebral syndrome
oculoauriculovertebral dysplasia
oculoauriculovertebral spectrum
Craniofacial microsomia
Facioauriculovertebral dysplasia
Number of Symptoms 86
OrphanetNr: 374
OMIM Id: 164210
ICD-10: Q87.0
UMLs: C0265240
C0432130
MeSH: D006053
MedDRA:
Snomed: 15557005
205418005
254026007
367462009

Prevalence, inheritance and age of onset:

Prevalence: 2.8 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Branchial arch or oral-acral syndrome
 -Rare developmental defect during embryogenesis
Bulbar conjunctival dermoid or conjunctival dermolipoma
 -Rare eye disease
 -Rare genetic disease
Dysostosis with predominant craniofacial involvement
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Genetic branchial arch or oral-acral syndrome
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Lens shape anomaly
 -Rare eye disease
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Oculo-auriculo-vertebral spectrum
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Pierre Robin syndrome associated with branchial archs anomalies
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Syndromic corneal dystrophy
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic palpebral coloboma
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001140) Epibulbar dermoid Frequent [Orphanet] 11 / 7739
2
 (HPO:0004467) Preauricular pit 39 / 7739
3
 (HPO:0000528) Anophthalmia 42 / 7739
4
 (HPO:0000568) Microphthalmia 183 / 7739
5
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
6
 (HPO:0000625) Cleft eyelid Occasional [Orphanet] 31 / 7739
7
 (HPO:0000636) Upper eyelid coloboma 7 / 7739
8
 (HPO:0000486) Strabismus 576 / 7739
9
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
10
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
11
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
12
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
13
 (HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
14
 (HPO:0002779) Tracheomalacia Occasional [Orphanet] 26 / 7739
15
 (HPO:0004322) Short stature Occasional [Orphanet] 1232 / 7739
16
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
17
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
18
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
19
 (HPO:0001680) Coarctation of aorta 57 / 7739
20
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
21
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
22
 (HPO:0004660) Hypoplasia of facial musculature 1 / 7739
23
 (HPO:0011331) Hemifacial atrophy Very frequent [Orphanet] 79 / 7739
24
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
25
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
26
 (HPO:0001249) Intellectual disability 1089 / 7739
27
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
28
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
29
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
30
 (HPO:0000347) Micrognathia 426 / 7739
31
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
32
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
33
 (HPO:0002085) Occipital encephalocele 20 / 7739
34
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
35
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
36
 (HPO:0003305) Block vertebrae 7 / 7739
37
 (HPO:0003468) Abnormality of the vertebrae 77 / 7739
38
 (HPO:0008417) Vertebral hypoplasia 6 / 7739
39
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
40
 (HPO:0002937) Hemivertebrae 41 / 7739
41
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
42
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
43
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
44
 (HPO:0000324) Facial asymmetry 57 / 7739
45
 (HPO:0000272) Malar flattening 277 / 7739
46
 (HPO:0004426) Abnormality of the cheek Frequent [Orphanet] 3 / 7739
47
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
48
 (HPO:0000175) Cleft palate 349 / 7739
49
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
50
 (HPO:0000154) Wide mouth Occasional [Orphanet] 137 / 7739
51
 (HPO:0000581) Blepharophimosis 197 / 7739
52
 (HPO:0000600) Abnormality of the pharynx Occasional [Orphanet] 22 / 7739
53
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
54
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
55
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
56
 (HPO:0011390) Morphological abnormality of the inner ear Frequent [Orphanet] 21 / 7739
57
 (HPO:0000405) Conductive hearing impairment 164 / 7739
58
 (HPO:0004452) Abnormality of the middle ear ossicles Frequent [Orphanet] 26 / 7739
59
 (HPO:0009794) Branchial anomaly 5 / 7739
60
 (HPO:0000384) Preauricular skin tag Very frequent [Orphanet] 62 / 7739
61
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
62
 (HPO:0000372) Abnormality of the auditory canal Frequent [Orphanet] 49 / 7739
63
 (HPO:0009892) Anotia 8 / 7739
64
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Frequent [Orphanet] 67 / 7739
65
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
66
 (HPO:0008551) Microtia 98 / 7739
67
 (HPO:0008605) Unilateral external ear deformity 1 / 7739
68
 (HPO:0000076) Vesicoureteral reflux 94 / 7739
69
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
70
 (HPO:0000086) Ectopic kidney 29 / 7739
71
 (HPO:0000003) Multicystic kidney dysplasia 17 / 7739
72
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
73
 (HPO:0000104) Renal agenesis 68 / 7739
74
 (HPO:0000074) Ureteropelvic junction obstruction 15 / 7739
75
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
76
 (HPO:0002308) Arnold-Chiari malformation 42 / 7739
77
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
78
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
79
 (HPO:0000238) Hydrocephalus 278 / 7739
80
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
81
 (OMIM) Branchial cleft remnant 1 / 7739
82
 (OMIM) Hypoplasia of septum pellucidum 1 / 7739
83
 (OMIM) Lipodermoid 1 / 7739
84
 (OMIM) Parotid agenesis 1 / 7739
85
 (OMIM) Small half of face 1 / 7739
86
 (OMIM) Soft palate malfunction 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hemifacial microsomia is a common birth defect involving first and second branchial arch derivatives. The phenotype is highly variable. In addition to craniofacial anomalies, there may be cardiac, vertebral, and central nervous system defects. Most cases are sporadic, ...
Diagnosis OMIM - Prenatal Diagnosis

Castori et al. (2006) presented a case of OAVS diagnosed prenatally with multiple congenital anomalies and reviewed the prenatal ultrasound findings of 20 previously reported cases. Gestational age at diagnosis ranged from 14 ...
Clinical Description OMIM The features of hemifacial microsomia include unilateral deformity of the external ear and small ipsilateral half of the face with epibulbar dermoid and vertebral anomalies. Coloboma of the upper eyelid is frequent. The ear deformities range from preauricular ...
Molecular genetics OMIM - Exclusion Studies

Based on mapping, mouse expression, and phenotype data, Kelberman et al. (2001) considered the goosecoid gene (GSC; 138890) to be an excellent candidate gene for HFM. They searched the GSC coding region for ...
Population genetics OMIM Gorlin et al. (2001) estimated the incidence of HFM to be 1 in 5,600.

Morrison et al. (1992) estimated a minimum prevalence rate of OAV dysplasia of 1 in 45,000 in Northern Ireland.