227:
218:
40:
198:
466:, including reconstruction of the mandible. Research indicates that a reasonable quality of life may even be achieved. However, the lack of musculature cannot be repaired with current therapies. This means swallowing is virtually impossible, so patients will depend on
419:
complex, which is invariably associated with fetal death or death immediately after birth. Otocephaly is classified into four groups: (1) agnathia alone; (2) agnathia with holoprosencephaly; (3) agnathia with situs inversus and
241:
The disorder is characterised by the absence of the mandible (agnathia), with the ears fused together just below the chin (synotia). In addition to agnathia and synotia, other symptoms that may manifest in otocephaly include:
512:
In 2018, Indian neonatologist Kanwar Singh and his associates described a particularly severe case of otocephaly with cyclopia, agnathia, complete astomia and synotia. They dubbed the resulting condition Kanwar syndrome.
967:
895:
337:. Grades 1 to 5 were isolated agnathia with no neurological defects. Grades 6 to 9 featured severe holoprosencephaly. Grades 10 to 12 featured aprosopus (absence of the face and most of the head) with
960:
481:
In all cases, an expert team, family information, premature birth planning, early gastrostomy and tracheostomy, and a long-term treatment plan are essential to ensure proper patient management.
447:
Because of the wide range of malformations, outcomes are variable. The most severe cases, often called cyclopia-holoprosencephaly complex, are almost invariably lethal, and patients show
953:
399:
10. Usually, failure of this will result in isolated agnathia, but otocephaly may occur in exceptional circumstances. After agenesis of the first branchial arch, no cure is possible.
784:
Golinko MS, Shetye P, Flores RL, Staffenberg DA (November 2015). "Severe
Agnathia-Otocephaly Complex: Surgical Management and Longitudinal Follow-up From Birth Through Adulthood".
659:
Utkus A, Kazakevicius R, Ptasekas R, Kucinskas V, Beckwith JB, Opitz JM (June 2001). "Human anotocephaly (aprosopus, acrania-synotia) in the
Vilnius anatomical collection".
1125:
940:
387:, many different organ systems begin development. Any disruption in these processes results in complex malformation, which usually results in death. The
493:. In 1933, evolutionary biologist Sewall Wright performed a study on otocephaly on guinea pigs and gave otocephaly its name. The name comes from the
459:
is difficult due to severe airway malformations, and only approximately 7 non-holoprosencephaly patients have survived beyond infancy.
424:
anomalies; and (4) agnathia with holoprosencephaly, situs inversus, and visceral anomalies. Other extracranial malformations include
346:
745:"Agnathia-otocephaly: prenatal diagnosis by two- and three-dimensional ultrasound and magnetic resonance imaging. Case report"
910:
542:
407:
Otocephaly describes a spectrum of various manifestations, ranging in severity from severe micrognathia as a part of the
185:), with the ears fused together just below the chin (synotia). It is caused by a disruption to the development of the
1065:
448:
433:
288:
475:
945:
1104:
743:
Hisaba WJ, Milani HJ, Araujo JĂşnior E, Passos JP, Barreto EQ, Carvalho NS, et al. (December 2014).
462:
However, the less severe agnathia-otocephaly complex (AOC) has been successfully treated by extensive
126:
921:
467:
463:
121:
471:
408:
388:
235:
Grade 10-12 otocephaly in a dog and a pig; their faces have been reduced to only their ears.
1070:
186:
8:
976:
456:
263:
206:
853:
828:
809:
720:
695:
636:
611:
425:
297:
130:
114:
64:
226:
217:
134:
858:
801:
766:
725:
711:
676:
641:
612:"On the Genetics of Subnormal Development of the Head (Otocephaly) in the Guinea Pig"
589:
490:
416:
372:
338:
283:
174:
109:
78:
52:
813:
761:
744:
848:
840:
793:
756:
715:
707:
668:
631:
623:
579:
375:, while prevalent in related conditions like cyclopia, are uncommon in otocephaly.
358:
57:
926:
797:
452:
627:
696:"Otocephaly: Agnathia- Microstomia-Synotia Syndrome- A Rare Congenital Anomaly"
494:
437:
396:
307:
93:
975:
904:
1119:
593:
429:
384:
342:
330:
182:
33:
Agnathia-otocephaly complex, dysgnathia complex, holoprosencephaly–agnathia,
1042:
1037:
862:
805:
770:
729:
680:
645:
368:
345:. One human case corresponding to a high Wright grade has been reported in
273:
70:
584:
567:
197:
1088:
1024:
1019:
1014:
844:
293:
253:
150:
74:
887:
1055:
441:
334:
146:
672:
568:"Cyclopia-otocephaly-agnathia-synotia-astomia complex: A case report"
498:
392:
269:
141:
89:
537:
412:
259:
202:
178:
658:
421:
915:
826:
899:
742:
783:
363:
39:
538:"OMIM Entry - # 202650 - AGNATHIA-OTOCEPHALY COMPLEX; AGOTC"
1080:
1050:
992:
984:
980:
489:
Otocephaly was first described in 1717 by Dutch scientist
1032:
1001:
694:
Jagtap SV, Saini N, Jagtap S, Saini S (September 2015).
827:
DĂaz Del Arco C, Oliva A, Pelayo AlarcĂłn A (Jan 2020).
565:
693:
391:
will normally develop around the 23rd to 26th day of
877:
829:"Agnathia-microstomia-synotia syndrome (otocephaly)"
1117:
249:Small (microglossia) or absent (aglossia) tongue
1126:Congenital disorders of eye, ear, face and neck
566:Singh K, Sharma S, Agarwal K, Kalra A (2018).
444:and rib, vertebral, or cardiac abnormalities.
961:
700:Journal of Clinical and Diagnostic Research
968:
954:
189:. It occurs in every 1 in 70,000 embryos.
38:
852:
760:
719:
635:
583:
333:described twelve grades of otocephaly in
605:
603:
561:
559:
196:
1118:
609:
357:Otocephaly is generally a result of a
310:(full rotation of the internal organs)
16:Congenital first branchial arch defect
949:
600:
556:
192:
661:American Journal of Medical Genetics
532:
530:
528:
526:
177:characterized by the absence of the
77:), fused ears below chin (synotia),
786:The Journal of Craniofacial Surgery
543:Online Mendelian Inheritance in Man
474:may eventually allow more complete
13:
979:malformations and deformations of
470:. Researchers are optimistic that
14:
1137:
873:
523:
225:
216:
762:10.11152/mu.201.3.2066.164.wjh1
572:Journal of Clinical Neonatology
478:of structures affected by AOC.
449:intrauterine growth restriction
289:Agenesis of the corpus callosum
820:
777:
736:
687:
652:
378:
1:
516:
339:absence of the prosencephalon
47:Female infant with otocephaly
798:10.1097/SCS.0000000000002150
712:10.7860/JCDR/2015/13636.6444
455:, and impaired ventilation.
402:
173:, is a very rare and lethal
7:
1105:Preauricular sinus and cyst
1066:Hallermann–Streiff syndrome
256:) or absent (astomia) mouth
171:agnathia–otocephaly complex
10:
1142:
833:Autopsy & Case Reports
610:Wright S (November 1934).
484:
434:corpus callosum dysgenesis
73:), small or absent mouth (
1097:
1079:
991:
881:
628:10.1093/genetics/19.6.471
325:
156:
140:
127:Treacher Collins syndrome
120:
108:
100:
84:
63:
51:
46:
37:
29:
24:
352:
749:Medical Ultrasonography
505:("ear") and the suffix
457:Endotracheal intubation
246:Facial/musculoskeletal
464:reconstructive surgery
209:
122:Differential diagnosis
585:10.4103/jcn.jcn_23_18
409:Pierre Robin sequence
200:
69:Absence of mandible (
1071:Branchial cleft cyst
845:10.4322/acr.2020.152
389:first branchial arch
187:first branchial arch
426:neural tube defects
373:Autosomal trisomies
367:on the long arm of
316:Ambiguous genitalia
298:neural tube defects
115:Prenatal ultrasound
210:
193:Signs and symptoms
131:Goldenhar syndrome
1113:
1112:
936:
935:
673:10.1002/ajmg.1320
491:Theodor Kerckring
468:enteral nutrition
417:holoprosencephaly
319:Absence of glands
313:Cardiac anomalies
284:Holoprosencephaly
175:cephalic disorder
164:
163:
110:Diagnostic method
88:23rd–26th day of
79:holoprosencephaly
19:Medical condition
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970:
963:
956:
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878:
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856:
824:
818:
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792:(8): 2387–2392.
781:
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734:
733:
723:
706:(9): ED03–ED04.
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554:
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551:
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395:, also known as
359:de novo mutation
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201:Otocephaly with
169:, also known as
58:Medical genetics
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22:
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1063:multiple/other:
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839:(1): e2020152.
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472:transplantation
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135:Möbius syndrome
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941:NINDS Overview
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891:
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883:
882:Classification
875:
874:External links
872:
869:
868:
819:
776:
755:(4): 377–379.
735:
686:
667:(2): 163–171.
651:
622:(6): 471–505.
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555:
521:
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515:
486:
483:
476:reconstruction
404:
401:
397:Carnegie stage
380:
377:
354:
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347:modern history
327:
324:
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322:
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314:
311:
308:Situs inversus
304:Organ systems
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94:Carnegie stage
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438:renal ectopia
435:
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427:
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410:
400:
398:
394:
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386:
385:embryogenesis
383:During early
376:
374:
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366:
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360:
350:
348:
344:
343:mesencephalon
340:
336:
332:
331:Sewall Wright
318:
315:
312:
309:
306:
305:
303:
299:
295:
292:
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287:
285:
282:
281:
280:Neurological
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36:
32:
28:
23:
1062:
1049:
1043:Microcheilia
1038:Macrocheilia
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909:
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836:
832:
822:
789:
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752:
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547:. Retrieved
541:
511:
506:
502:
488:
480:
461:
446:
406:
382:
369:chromosome 1
362:
361:in the gene
356:
329:
274:cleft palate
240:
170:
166:
165:
1089:Webbed neck
1025:Microstomia
1020:Macrostomia
453:prematurity
430:cephalocele
379:Development
335:guinea pigs
294:Anencephaly
254:microstomia
151:miscarriage
85:Usual onset
75:microstomia
30:Other names
1056:Microgenia
1007:Otocephaly
977:Congenital
578:(3): 177.
549:2019-06-05
517:References
509:("head").
442:hypoplasia
440:, adrenal
167:Otocephaly
147:Stillbirth
25:Otocephaly
1098:Ungrouped
594:2249-4847
499:Neo-Latin
497:-derived
403:Prognosis
393:gestation
296:or other
270:cleft lip
264:proboscis
207:proboscis
157:Frequency
142:Prognosis
90:gestation
53:Specialty
1120:Category
863:32185147
814:12250046
806:26517463
771:25463893
730:26500912
681:11391661
646:17246734
616:Genetics
507:-cephaly
422:visceral
413:cyclopia
260:Cyclopia
203:cyclopia
183:agnathia
179:mandible
160:1:70,000
71:agnathia
65:Symptoms
927:C562503
854:7059210
721:4606241
637:1208510
501:prefix
485:History
411:to the
268:Median
252:Small (
104:Genetic
916:202650
861:
851:
812:
804:
769:
728:
718:
679:
644:
634:
592:
326:Grades
205:and a
101:Causes
1015:mouth
905:Q18.2
810:S2CID
495:Greek
364:PRRX1
353:Cause
262:with
1081:Neck
1051:chin
993:Face
985:neck
983:and
981:face
922:MeSH
911:OMIM
859:PMID
802:PMID
767:PMID
726:PMID
677:PMID
642:PMID
590:ISSN
503:oto-
341:and
272:and
1033:lip
1002:jaw
896:ICD
849:PMC
841:doi
794:doi
757:doi
716:PMC
708:doi
669:doi
665:101
632:PMC
624:doi
580:doi
149:or
96:10)
1122::
925::
914::
903::
900:10
857:.
847:.
837:10
835:.
831:.
808:.
800:.
790:26
788:.
765:.
753:16
751:.
747:.
724:.
714:.
702:.
698:.
675:.
663:.
640:.
630:.
620:19
618:.
614:.
602:^
588:.
574:.
570:.
558:^
540:.
525:^
451:,
436:,
432:,
428:,
371:.
349:.
133:,
129:,
1053::
1035::
1017::
1004::
969:e
962:t
955:v
898:-
888:D
865:.
843::
816:.
796::
773:.
759::
732:.
710::
704:9
683:.
671::
648:.
626::
596:.
582::
576:7
552:.
415:-
181:(
92:(
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