67:
149:
40:
130:
138:
303:
Treatment is usually confined to such surgical intervention as may be necessary to help the child to develop e.g. jaw distraction/bone grafts, ocular dermoid debulking (see below), repairing cleft palate/lip, repairing heart malformations or spinal surgery. Some patients with
Goldenhar syndrome will
168:
on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. While it is more usual for there to be problems on only one side, it
216:
No general consensus on the minimal diagnostic criteria exists. The syndrome is characterized by hemifacial microsomia due to underdevelopment of structures derived from the 1st and 2nd branchial arches such as eyes, ears, palate, mandible. However, the presentation of the syndrome is highly
200:
The cause of
Goldenhar syndrome is largely unknown. However, it is thought to be multifactorial, although there may be a genetic component, which would account for certain familial patterns. It has been suggested that there is a branchial arch development issue late in the first trimester.
308:
or glasses. Stem cell grafting (womb tissue grafting) has been successfully used to "reprogram" eye dermoids, effectively halting the regrowth of eye dermoids. These tissues that grow on the eye are "mis-programmed" cells (sometimes tooth or nail cells instead of eye cells).
571:
M. Goldenhar. Associations malformatives de l’oeil et de l’oreille, en particulier le syndrome dermoïde epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. Journal de génétique humaine, Genève, 1952, 1:
601:
511:
Junaid, Mohammed; Slack-Smith, Linda; Wong, Kingsley; Bourke, Jenny; Baynam, Gareth; Calache, Hanny; Leonard, Helen (2022). "Epidemiology of Rare
Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study".
701:
1171:
486:
Beleza-Meireles A, Clayton-Smith J, Saraiva JM, et alOculo-auriculo-vertebral spectrum: a review of the literature and genetic updateJournal of
Medical Genetics 2014;51:635-645.
1176:
694:
33:
Oculo-auriculo-vertebral spectrum (OAVS), oculo-auriculo-vertebral dysplasia (OAV), expanded spectrum of hemifacial microsomia, facioauriculovertebral dysplasia
950:
687:
185:
498:
Bogusiak, K., Puch, A., & Arkuszewski, P. (2017). Goldenhar syndrome: current perspectives. World
Journal of Pediatrics : WJP, 13(5), 405–415.
757:
752:
374:
Touliatou V, Fryssira H, Mavrou A, Kanavakis E, Kitsiou-Tzeli S (2006). "Clinical manifestations in 17 Greek patients with
Goldenhar syndrome".
852:
616:
452:
Araneta MR, Moore CA, Olney RS, et al. (1997). "Goldenhar syndrome among infants born in military hospitals to Gulf War veterans".
465:
965:
890:
990:
955:
1052:
1166:
900:
1156:
857:
747:
960:
842:
1080:
872:
1016:
812:
767:
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822:
1011:
895:
276:
970:
807:
719:
627:
1161:
880:
283:
885:
710:
118:, although this definition is usually reserved for cases without internal organ and vertebrae disruption.
1119:
1107:
1091:
1063:
787:
727:
667:
115:
108:
137:
1075:
1059:
1047:
1035:
189:
104:
942:
930:
169:
has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases).
66:
737:
537:
153:
1040:
827:
817:
742:
638:
529:
469:
434:
383:
326:
121:
It affects between 1 in 3,500 and 1 in 5,600 live births, with a male-to-female ratio of 3:2.
80:
55:
208:
veterans has been suggested, but the difference was shown to be statistically insignificant.
1124:
1100:
980:
975:
837:
782:
521:
461:
424:
414:
60:
1112:
1096:
1084:
1068:
995:
862:
847:
832:
291:
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560:
148:
1133:
985:
732:
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402:
226:
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141:
92:
88:
1150:
799:
541:
347:
905:
679:
305:
230:
181:
39:
632:
160:
Chief markers of
Goldenhar syndrome are incomplete development of the ear, nose,
925:
525:
401:
Sudarshan P Gaurkar; Khushboo D Gupta; Kirti S Parmar & Bela J Shah (2013).
260:
161:
84:
643:
555:
920:
610:
253:
222:
177:
100:
419:
499:
264:
173:
129:
96:
48:
533:
438:
387:
473:
909:
772:
662:
466:
10.1002/(SICI)1096-9926(199710)56:4<244::AID-TERA3>3.0.CO;2-Z
325:
The condition was documented in 1952 by
Belgian–American ophthalmologist
268:
249:
245:
237:
205:
244:, partial to complete atresia of external acoustic meatus, preauricular
91:
on usually one side of the body. Common clinical manifestations include
593:
605:
272:
241:
128:
286:(seen with cerebral developmental anomalies and microphthalmia),
16:
Rare birth defect; incomplete development of the face on one side
621:
282:
Other features: Small stature, delayed psychomotor development,
271:. * Other organ abnormalities: cardiac defects (most frequently
683:
279:), and renal defects such as agenesis or multicystic kidneys.
83:
characterized by incomplete development of the ear, nose,
363:
188:), and deafness or blindness in one or both ears/eyes.
204:
An increase in
Goldenhar syndrome in the children of
103:. It is associated with anomalous development of the
47:
Female with
Goldenhar syndrome, showing preauricular
583:
1025:
1004:
941:
871:
798:
718:
653:
587:
317:Prevalence ranges from 1 in 3,500 to 8,500 births.
54:
29:
24:
259:Skeletal abnormalities: mandibular deformities,
114:The term is sometimes used interchangeably with
348:"Optic Nerve Head Drusen in Goldenhar Syndrome"
133:Severe Goldenhar syndrome in a 10-year-old girl
695:
8:
1172:Syndromes with musculoskeletal abnormalities
304:require assistance as they grow by means of
217:variable. Some of its features may include:
702:
688:
680:
584:
494:
492:
65:
38:
21:
1177:Syndromes with craniofacial abnormalities
500:https://doi.org/10.1007/s12519-017-0048-z
428:
418:
403:"Goldenhar Syndrome: A Report of 3 Cases"
186:hearing loss with craniofacial syndromes
147:
136:
338:
236:Otorhinolaryngological abnormalities:
152:This condition can be inherited in an
7:
172:Other problems can include severe
14:
951:Bannayan–Riley–Ruvalcaba syndrome
346:Zaka-ur-Rab Z, Mittal S (2007).
758:Bonnet–Dechaume–Blanc syndrome
1:
753:Sakati–Nyhan–Tisdale syndrome
407:Indian Journal of Dermatology
233:, eye asymmetry or dysmorphy.
176:(twisting of the vertebrae),
144:as seen in Goldenhar syndrome
991:Tatton-Brown–Rahman syndrome
961:Benign symmetric lipomatosis
1081:Branchio-oto-renal syndrome
956:Beckwith–Wiedemann syndrome
526:10.1016/j.jpeds.2021.09.060
192:may be associated as well.
1193:
1053:Zimmermann–Laband syndrome
1005:Laurence–Moon–Bardet–Biedl
966:Klippel–Trénaunay syndrome
916:Caudal regression syndrome
891:Klippel–Trénaunay syndrome
853:Smith–Lemli–Opitz syndrome
823:Cornelia de Lange syndrome
277:ventricular septal defects
901:Rubinstein–Taybi syndrome
46:
37:
971:Neurofibromatosis type I
858:Snyder–Robinson syndrome
808:1q21.1 deletion syndrome
748:Saethre–Chotzen syndrome
420:10.4103/0019-5154.110876
881:Adducted thumb syndrome
843:Silver–Russell syndrome
284:intellectual disability
1017:Laurence–Moon syndrome
813:Aarskog–Scott syndrome
768:Baller–Gerold syndrome
711:Congenital abnormality
221:Ocular abnormalities:
157:
145:
134:
1167:Syndromes with tumors
1012:Bardet–Biedl syndrome
896:Nail–patella syndrome
788:Pierre Robin sequence
728:Acrocephalosyndactyly
514:Journal of Pediatrics
190:Granulosa cell tumors
151:
140:
132:
116:hemifacial microsomia
109:second branchial arch
1157:Congenital disorders
943:Overgrowth syndromes
105:first branchial arch
931:VACTERL association
886:Holt–Oram syndrome
778:Goldenhar syndrome
738:Carpenter syndrome
654:External resources
275:septal defect and
223:epibulbar dermoids
158:
154:autosomal dominant
146:
135:
125:Signs and symptoms
77:Goldenhar syndrome
25:Goldenhar syndrome
1144:
1143:
1041:Feingold syndrome
828:Dubowitz syndrome
818:Cockayne syndrome
743:Pfeiffer syndrome
677:
676:
327:Maurice Goldenhar
81:congenital defect
74:
73:
19:Medical condition
1184:
1125:Donohue syndrome
1101:Timothy syndrome
981:Proteus syndrome
976:Perlman syndrome
838:Robinow syndrome
783:Moebius syndrome
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288:speech disorders
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61:Medical genetics
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22:
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1191:
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1181:
1147:
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1145:
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1113:Marfan syndrome
1097:Keutel syndrome
1085:CHARGE syndrome
1069:Fraser syndrome
1027:
1026:Combined/other,
1021:
1000:
996:Weaver syndrome
937:
867:
863:Turner syndrome
848:Seckel syndrome
833:Noonan syndrome
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178:limbal dermoids
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95:, preauricular
93:limbal dermoids
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20:
17:
12:
11:
5:
1190:
1188:
1180:
1179:
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1162:Rare syndromes
1159:
1149:
1148:
1142:
1141:
1139:
1138:
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1134:Fryns syndrome
1128:
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1023:
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986:Sotos syndrome
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733:Apert syndrome
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588:Classification
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580:External links
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460:(4): 244–251.
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227:microphthalmia
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142:Limbal dermoid
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800:Short stature
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561:Who Named It?
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382:(3): 359–70.
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906:Gastrulation
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720:Craniofacial
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376:Genet. Couns
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313:Epidemiology
306:hearing aids
302:
231:anophthalmia
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182:hearing loss
171:
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120:
113:
76:
75:
1028:known locus
926:Sirenomelia
361:(1): 33–34.
261:torticollis
164:, lip, and
162:soft palate
85:soft palate
30:Other names
1151:Categories
921:Ectromelia
639:DiseasesDB
520:: 162–72.
454:Teratology
413:(3): 244.
355:JK Science
333:References
254:microsomia
246:appendages
101:strabismus
87:, lip and
79:is a rare
1130:Multiple
713:syndromes
556:synd/2300
542:238532372
299:Treatment
294:behaviors
265:scoliosis
212:Diagnosis
174:scoliosis
97:skin tags
56:Specialty
49:skin tags
910:mesoderm
773:Cyclopia
663:Orphanet
572:243-282.
534:34626670
439:23723509
388:17100205
292:autistic
269:kyphosis
250:deafness
238:microtia
206:Gulf War
166:mandible
89:mandible
633:D006053
474:9408975
430:3667321
156:manner.
764:Other
622:164210
540:
532:
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437:
427:
386:
321:Eponym
273:atrial
252:, and
242:anotia
196:Causes
63:
873:Limbs
644:31292
611:Q87.0
538:S2CID
351:(PDF)
184:(see
628:MeSH
617:OMIM
530:PMID
470:PMID
435:PMID
384:PMID
290:and
180:and
107:and
99:and
668:374
602:ICD
559:at
522:doi
518:241
462:doi
425:PMC
415:doi
1153::
1120:19
1108:15
1099:,
1092:12
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1064:13
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491:^
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703:e
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689:v
604:-
594:D
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359:9
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
