201:
within a few hours to a few days of birth. Typically, medical termination of pregnancy is presented as an option to the mother once a diagnosis of rachischisis has been confirmed. As the condition is often accompanied by other deformities that not only need to be treated themselves, but also complicate the condition of rachischisis, it is difficult to treat fetuses affected. Treatments for neural tube defects such as spina bifida do not work as the child is not stable enough to receive them, or they are complicated by other accompanying conditions that have developed alongside rachischisis.
56:
32:
205:
inhibition was expected, and the prognosis was still extremely poor. This sparked questions as to whether this sort of treatment was ethical on fetuses. The fetus in this case had developed rachischisis without any indications of acrania. This is not typical of most cases, so this treatment would not be possible in the majority of cases of the condition.
120:
is a developmental defect in which the bones with the cranial vault do not develop correctly and brain does not develop fully. Rachischisis can develop in conjunction with acrania, causing further damage to the brain and spinal regions. In the absence of acrania, patients with rachischisis still have
208:
Due to the lack of treatments available for rachischisis, there is a focus on prevention of the disease. Folate supplementation is recommended before conception (if possible) and through to early pregnancy. There are many products on the market to assist with this. Products marketed towards reducing
204:
There has, however, been one reported successful treatment of rachischisis. The fetus was able to have the spinal shunt closed surgically. However, during this treatment several resuscitations were required and these caused trauma to the chest. Despite the closing of the shunt, extreme developmental
159:
Initial diagnosis is typically by ultrasonography to reveal any congenital abnormalities. Fetuses affected typically show cranial abnormalities and deformities in brain tissue as well as spinal abnormalities. Following ultrasonography, magnetic resonance imaging (MRI) is commonly used to confirm the
127:
is a condition in which the baby develops with an open skull in some region. Rachischisis can develop in conjunction with anencephaly, increasing the amount of area that is exposed. Although these conditions closely resemble one another, cases of rachischisis are morphologically different from cases
200:
Rachischisis is a severe condition and survival rates for fetuses are extremely low. Babies that are born with the condition have high mortality rates and extreme developmental defects. Fetuses with the condition often spontaneously abort. Babies that are born with rachischisis are stillborn or die
113:
Rachischisis is a complex condition and presents itself along with other deformities. Other deformities are typically those of the face, neck, spine and head. It is extremely common for rachischisis to develop in conjunction with aplasia (a condition in which a tissue or organ does not develop
88:
overlying the open portion of the spinal cord do not fully form and remain unfused and open, leaving the spinal cord exposed. Patients with rachischisis have motor and sensory deficits, chronic infections, and disturbances in bladder function. This defect often occurs with
1013:
429:
Nakamura H, Okazaki T, Koga H, Lane GJ, Yamataka A (2012). "Congenital brachioesophagus with secondary intrathoratic stomach associated with rachischisis described as "serpentine-like syndrome": a case report and literature review".
146:
If a sibling of the fetus has been affected by rachischisis, there is increased risk that another child will develop the condition. There is also a slightly higher chance that females will develop the condition over males.
727:
171:
Rachischisis occurs most commonly in utero during the development of the child. Rachischisis is a neural tube defect characterised by a complete or severe defect in the spine. The defect can be located anywhere from the
150:
Folate deficiency is also a well-accepted risk factor of all neural tube defects, including rachischisis. It is this reason that has caused many health policies regarding folic acid during pregnancy to be developed.
1006:
680:
661:
180:, or through the entire length of the spine. Typical defects are clefts or splits that open the spine to the exterior environment. Rachischisis occurs around 3–4 weeks after conception when the posterior
999:
163:
Other neural tube defect diagnostic tools such as assays of α-fetoprotein or acetylcholinesterase may also be helpful in determining any other conditions that can lead to development of rachischisis.
720:
552:"Two Cases of Craniospinal Rachischisis Totalis: Roles of Magnetic Resonance Imaging in Diagnosis and Review of Neural Tube Defects in the Indian Context with Implications for Folate Fortification"
713:
192:, with the spine not only being exposed to the exterior environment, but with the opening being large enough to allow the neural plate to spread out of the opening and to the surface.
96:
Craniorachischisis is a variant of rachischisis that occurs when the entire spinal cord and brain are exposed – simultaneous complete rachischisis and anencephaly. It is
351:
Erdinçler P, Kaynar MY, Canbaz B, Koçer N, Kuday C, Ciplak N (1998). "Iniencephaly: neuroradiological and surgical features. Case report and review of the literature".
188:
does not close completely. It is a multifactorial aetiology and is most typically accompanied by other defects. Rachischisis is often described as a severe form of
1700:
991:
1695:
1593:
138:
Further abnormalities such as rib malformations can occur with rachischisis. Stomach deformities can also develop with rachischisis.
1086:
912:
100:; affected pregnancies often end in miscarriage or stillbirth. Infants born alive with craniorachischisis die soon after birth.
386:
Qi BQ, Spences WB, Arsic D (2004). "Abnormalities of the vertebral column and ribs associated with anorectal malformations".
1534:
1021:
1488:
1207:
864:
705:
1323:
1026:
209:
the risk of spina bifida and other neural tube defects are recommended to reduce the risk of rachischisis.
1493:
1212:
1042:
1030:
887:
262:
324:
Kjaer I, Keeling JW, Graem N (1994). "Cranial base and vertebral column in human anencephalic fetuses".
160:
diagnosis. The presence of rachischisis is indicated in imaging by the absence of an arch-cranial line.
1524:
238:
1578:
1498:
821:
55:
1433:
1076:
1470:
1104:
1081:
478:"Craniospinal rachischisis with multiple anomalies in an anencephalic fetus: A rare case report"
97:
1373:
1038:
869:
239:"Craniorachischisis | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
289:
Meadows JT Jr, Hayes D Jr (2014). "Rachischisis
Totalis Without Acrania in a Newborn Male".
1588:
8:
1406:
1022:
795:
736:
684:
511:"Folic Acid Supplementation and Pregnancy: More Than Just Neural Tube Defect Prevention"
302:
1268:
966:
937:
879:
845:
757:
693:
578:
551:
527:
510:
455:
411:
84:
of the neural tube fails to close by the 27th intrauterine day. As a consequence the
1603:
1583:
835:
624:
583:
532:
447:
403:
368:
333:
306:
44:
689:
459:
1650:
1645:
1566:
1558:
1478:
1442:
1250:
1202:
1159:
971:
614:
573:
563:
522:
489:
439:
415:
395:
360:
298:
49:
1666:
1401:
1231:
1197:
1150:
855:
72:: "rhachis - ῥάχις" - spine, and "schisis - σχίσις" - split) is a developmental
1529:
1460:
1424:
1396:
1318:
1222:
1096:
907:
898:
874:
740:
735:
364:
69:
674:
443:
399:
1689:
1539:
1483:
1450:
1333:
1154:
976:
840:
816:
790:
568:
494:
477:
218:
31:
670:
1621:
1514:
1356:
1328:
1114:
1109:
945:
893:
811:
783:
619:
602:
587:
536:
451:
407:
310:
189:
132:
73:
628:
372:
337:
1544:
1311:
1302:
1187:
1119:
928:
765:
748:
185:
124:
90:
77:
653:
1519:
1455:
1368:
1362:
1338:
1306:
1273:
1242:
1192:
1164:
850:
603:"Malformations of the atlas vertebra simulating the Jefferson fracture"
1626:
1571:
1378:
1263:
1256:
1237:
1169:
1133:
778:
181:
85:
81:
549:
108:
1068:
1064:
1046:
1636:
1294:
773:
117:
665:
177:
475:
128:
of anencephaly, so they are indeed two separate conditions.
1179:
550:
Jaganmohan D, Subramaniam P, Krishnan N, Mahajan P (2017).
509:
Greenberg, J. A.; Bell, S. J.; Guan, Y.; Yu, Y. H. (2011).
173:
131:
Rachischisis is also a contributing factor to the onset of
350:
326:
1612:
1142:
1055:
600:
476:
Bannur HB, Suranagi VV, Davanageri R, Pilli GS (2014).
428:
16:
Neural tube defect in which the spinal cord is exposed
643:
508:
80:. This anomaly occurs in utero, when the posterior
601:Gehweiler JA Jr, Daffner RH, Roberts L Jr (2017).
323:
109:Interactions with other developmental deformities
1687:
39:Craniorachischisis in a mouse embryo at day 18.5
135:– a condition in which the spine is malformed.
1701:Congenital disorders of musculoskeletal system
471:
469:
385:
1007:
721:
594:
379:
288:
466:
344:
1014:
1000:
728:
714:
317:
54:
30:
618:
577:
567:
526:
493:
422:
284:
282:
913:Bilateral frontoparietal polymicrogyria
1696:Congenital disorders of nervous system
1688:
515:Reviews in Obstetrics & Gynecology
279:
995:
709:
1535:Greig cephalopolysyndactyly syndrome
543:
303:10.1016/j.pediatrneurol.2014.02.019
13:
1025:malformations and deformations of
739:malformations and deformations of
556:Journal of Pediatric Neurosciences
14:
1712:
639:
607:American Journal of Roentgenology
166:
1208:Congenital patellar dislocation
1087:Wallis–Zieff–Goldblatt syndrome
865:Agenesis of the corpus callosum
432:Pediatric Surgery International
388:Pediatric Surgery International
141:
103:
502:
263:"Orphanet: Craniorachischisis"
255:
231:
1:
224:
195:
154:
7:
1494:Oto-palato-digital syndrome
1489:Hallermann–Streiff syndrome
1213:Congenital knee dislocation
1031:musculoskeletal abnormality
831:other reduction deformities
212:
10:
1717:
1525:Craniodiaphyseal dysplasia
365:10.3171/jns.1998.89.2.0317
1659:
1635:
1611:
1602:
1557:
1507:
1499:Treacher Collins syndrome
1469:
1441:
1432:
1423:
1389:
1350:reduction deficits / limb
1349:
1293:
1286:
1221:
1178:
1141:
1132:
1095:
1063:
1054:
1037:
959:
936:
927:
804:
756:
747:
647:
444:10.1007/s00383-011-3000-7
400:10.1007/s00383-004-1212-9
243:rarediseases.info.nih.gov
43:
38:
29:
24:
1324:Cenani–Lenz syndactylism
1077:Cleidocranial dysostosis
817:Congenital hydrocephalus
569:10.4103/1817-1745.205632
495:10.4103/0974-5009.141242
1471:Craniofacial dysostosis
482:Journal of Neurosurgery
353:Journal of Neurosurgery
121:a high mortality rate.
1027:musculoskeletal system
620:10.2214/ajr.140.6.1083
98:incompatible with life
1579:Klippel–Feil syndrome
870:Septo-optic dysplasia
822:Dandy–Walker syndrome
1589:Spina bifida occulta
1105:Madelung's deformity
1082:Sprengel's deformity
1407:RAPADILINO syndrome
796:Chiari malformation
291:Pediatric Neurology
1269:Rocker bottom foot
967:Currarino syndrome
938:Neural tube defect
880:Hemimegalencephaly
846:Microlissencephaly
758:Neural tube defect
1683:
1682:
1679:
1678:
1675:
1674:
1604:Thoracic skeleton
1584:Spondylolisthesis
1553:
1552:
1419:
1418:
1415:
1414:
1282:
1281:
1128:
1127:
989:
988:
985:
984:
923:
922:
836:Holoprosencephaly
703:
702:
63:
62:
19:Medical condition
1708:
1651:Pectus carinatum
1646:Pectus excavatum
1609:
1608:
1567:Spinal curvature
1559:Vertebral column
1479:Crouzon syndrome
1443:Craniosynostosis
1439:
1438:
1430:
1429:
1295:fingers and toes
1291:
1290:
1203:Discoid meniscus
1160:Upington disease
1139:
1138:
1061:
1060:
1052:
1051:
1016:
1009:
1002:
993:
992:
972:Diastomatomyelia
934:
933:
754:
753:
730:
723:
716:
707:
706:
645:
644:
633:
632:
622:
613:(6): 1083–1086.
598:
592:
591:
581:
571:
547:
541:
540:
530:
506:
500:
499:
497:
473:
464:
463:
426:
420:
419:
383:
377:
376:
348:
342:
341:
321:
315:
314:
286:
277:
276:
274:
273:
259:
253:
252:
250:
249:
235:
59:
58:
50:Medical genetics
34:
22:
21:
1716:
1715:
1711:
1710:
1709:
1707:
1706:
1705:
1686:
1685:
1684:
1671:
1667:Poland syndrome
1655:
1631:
1598:
1549:
1503:
1465:
1411:
1402:Larsen syndrome
1390:multiple joints
1385:
1345:
1278:
1217:
1198:Genu recurvatum
1174:
1151:Hip dislocation
1124:
1091:
1041:
1033:
1020:
990:
981:
955:
919:
856:Hydranencephaly
800:
743:
734:
704:
699:
698:
656:
642:
637:
636:
599:
595:
548:
544:
507:
503:
474:
467:
427:
423:
384:
380:
349:
345:
322:
318:
287:
280:
271:
269:
261:
260:
256:
247:
245:
237:
236:
232:
227:
215:
198:
174:cervical region
169:
157:
144:
111:
106:
53:
20:
17:
12:
11:
5:
1714:
1704:
1703:
1698:
1681:
1680:
1677:
1676:
1673:
1672:
1670:
1669:
1663:
1661:
1657:
1656:
1654:
1653:
1648:
1642:
1640:
1633:
1632:
1630:
1629:
1624:
1618:
1616:
1606:
1600:
1599:
1597:
1596:
1591:
1586:
1581:
1576:
1575:
1574:
1563:
1561:
1555:
1554:
1551:
1550:
1548:
1547:
1542:
1537:
1532:
1530:Dolichocephaly
1527:
1522:
1517:
1511:
1509:
1505:
1504:
1502:
1501:
1496:
1491:
1486:
1481:
1475:
1473:
1467:
1466:
1464:
1463:
1461:Trigonocephaly
1458:
1453:
1447:
1445:
1436:
1434:Skull and face
1427:
1421:
1420:
1417:
1416:
1413:
1412:
1410:
1409:
1404:
1399:
1397:Arthrogryposis
1393:
1391:
1387:
1386:
1384:
1383:
1382:
1381:
1376:
1371:
1359:
1353:
1351:
1347:
1346:
1344:
1343:
1342:
1341:
1331:
1326:
1321:
1319:Arachnodactyly
1316:
1315:
1314:
1299:
1297:
1288:
1284:
1283:
1280:
1279:
1277:
1276:
1271:
1266:
1261:
1260:
1259:
1247:
1246:
1245:
1240:
1227:
1225:
1223:foot deformity
1219:
1218:
1216:
1215:
1210:
1205:
1200:
1195:
1190:
1184:
1182:
1176:
1175:
1173:
1172:
1167:
1162:
1157:
1147:
1145:
1136:
1130:
1129:
1126:
1125:
1123:
1122:
1117:
1112:
1107:
1101:
1099:
1097:hand deformity
1093:
1092:
1090:
1089:
1084:
1079:
1073:
1071:
1058:
1049:
1035:
1034:
1019:
1018:
1011:
1004:
996:
987:
986:
983:
982:
980:
979:
974:
969:
963:
961:
957:
956:
954:
953:
948:
942:
940:
931:
925:
924:
921:
920:
918:
917:
916:
915:
908:Polymicrogyria
904:
903:
902:
901:
899:Schizencephaly
896:
883:
882:
877:
875:Megalencephaly
872:
867:
861:
860:
859:
858:
853:
848:
843:
838:
827:
826:
825:
824:
814:
808:
806:
802:
801:
799:
798:
793:
788:
787:
786:
781:
776:
771:
762:
760:
751:
745:
744:
741:nervous system
733:
732:
725:
718:
710:
701:
700:
697:
696:
677:
657:
652:
651:
649:
648:Classification
641:
640:External links
638:
635:
634:
593:
542:
501:
488:(3): 206–207.
465:
421:
394:(7): 529–533.
378:
359:(2): 317–320.
343:
332:(4): 235–244.
316:
297:(1): 123–125.
278:
254:
229:
228:
226:
223:
222:
221:
214:
211:
197:
194:
168:
167:Classification
165:
156:
153:
143:
140:
110:
107:
105:
102:
76:involving the
61:
60:
47:
41:
40:
36:
35:
27:
26:
18:
15:
9:
6:
4:
3:
2:
1713:
1702:
1699:
1697:
1694:
1693:
1691:
1668:
1665:
1664:
1662:
1658:
1652:
1649:
1647:
1644:
1643:
1641:
1638:
1634:
1628:
1625:
1623:
1620:
1619:
1617:
1614:
1610:
1607:
1605:
1601:
1595:
1594:Sacralization
1592:
1590:
1587:
1585:
1582:
1580:
1577:
1573:
1570:
1569:
1568:
1565:
1564:
1562:
1560:
1556:
1546:
1543:
1541:
1540:Plagiocephaly
1538:
1536:
1533:
1531:
1528:
1526:
1523:
1521:
1518:
1516:
1513:
1512:
1510:
1506:
1500:
1497:
1495:
1492:
1490:
1487:
1485:
1484:Hypertelorism
1482:
1480:
1477:
1476:
1474:
1472:
1468:
1462:
1459:
1457:
1454:
1452:
1451:Scaphocephaly
1449:
1448:
1446:
1444:
1440:
1437:
1435:
1431:
1428:
1426:
1422:
1408:
1405:
1403:
1400:
1398:
1395:
1394:
1392:
1388:
1380:
1377:
1375:
1372:
1370:
1367:
1366:
1365:
1364:
1360:
1358:
1355:
1354:
1352:
1348:
1340:
1337:
1336:
1335:
1334:Brachydactyly
1332:
1330:
1327:
1325:
1322:
1320:
1317:
1313:
1310:
1309:
1308:
1304:
1301:
1300:
1298:
1296:
1292:
1289:
1287:Either / both
1285:
1275:
1272:
1270:
1267:
1265:
1262:
1258:
1255:
1254:
1253:
1252:
1248:
1244:
1241:
1239:
1236:
1235:
1234:
1233:
1229:
1228:
1226:
1224:
1220:
1214:
1211:
1209:
1206:
1204:
1201:
1199:
1196:
1194:
1191:
1189:
1186:
1185:
1183:
1181:
1177:
1171:
1168:
1166:
1163:
1161:
1158:
1156:
1155:Hip dysplasia
1152:
1149:
1148:
1146:
1144:
1140:
1137:
1135:
1131:
1121:
1118:
1116:
1113:
1111:
1108:
1106:
1103:
1102:
1100:
1098:
1094:
1088:
1085:
1083:
1080:
1078:
1075:
1074:
1072:
1070:
1066:
1062:
1059:
1057:
1053:
1050:
1048:
1044:
1040:
1036:
1032:
1028:
1024:
1017:
1012:
1010:
1005:
1003:
998:
997:
994:
978:
977:Syringomyelia
975:
973:
970:
968:
965:
964:
962:
958:
952:
949:
947:
944:
943:
941:
939:
935:
932:
930:
926:
914:
911:
910:
909:
906:
905:
900:
897:
895:
892:
891:
890:
889:
885:
884:
881:
878:
876:
873:
871:
868:
866:
863:
862:
857:
854:
852:
849:
847:
844:
842:
841:Lissencephaly
839:
837:
834:
833:
832:
829:
828:
823:
820:
819:
818:
815:
813:
810:
809:
807:
803:
797:
794:
792:
791:Encephalocele
789:
785:
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267:www.orpha.net
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219:Cranioschisis
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1515:Macrocephaly
1361:
1357:Acheiropodia
1329:Ectrodactyly
1249:
1230:
1115:Oligodactyly
1110:Clinodactyly
1039:Appendicular
951:Rachischisis
950:
946:Spina bifida
894:Porencephaly
886:
830:
812:Microcephaly
784:Iniencephaly
679:
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562:(1): 32–35.
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521:(2): 52–59.
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190:spina bifida
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142:Risk factors
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133:iniencephaly
130:
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116:
112:
104:Presentation
95:
74:birth defect
66:Rachischisis
65:
64:
25:Rachischisis
1545:Saddle nose
1312:Webbed toes
1303:Polydactyly
1188:Genu valgum
1120:Polydactyly
929:Spinal cord
766:Anencephaly
186:neural tube
125:Anencephaly
91:anencephaly
78:neural tube
1690:Categories
1520:Platybasia
1456:Oxycephaly
1369:Phocomelia
1363:Ectromelia
1339:Stub thumb
1307:Syndactyly
1274:Hammer toe
1243:Pigeon toe
1193:Genu varum
1165:Coxa valga
1023:Congenital
851:Pachygyria
737:Congenital
272:2017-02-16
248:2017-02-16
225:References
1572:Scoliosis
1379:Hemimelia
1264:Pes cavus
1257:Flat feet
1238:Club foot
1170:Coxa vara
779:Acalvaria
196:Treatment
182:neuropore
155:Diagnosis
86:vertebrae
82:neuropore
45:Specialty
1622:Cervical
1069:shoulder
1065:clavicle
1047:dysmelia
888:CNS cyst
770:Acephaly
588:28553376
537:22102928
460:13004759
452:22009206
408:15205902
311:24814060
213:See also
114:fully).
1637:sternum
774:Acrania
629:6602470
579:5437784
528:3218540
416:8683010
373:9688130
338:7883870
184:of the
176:to the
118:Acrania
1660:other:
1374:Amelia
1251:valgus
694:756.17
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178:sacrum
52:
1627:Bifid
1508:other
1425:Axial
1232:varus
960:Other
805:Other
749:Brain
675:Q76.0
456:S2CID
412:S2CID
70:Greek
1613:ribs
1180:knee
1056:Arms
1043:limb
685:9-CM
625:PMID
584:PMID
533:PMID
448:PMID
404:PMID
369:PMID
334:PMID
307:PMID
1143:hip
1134:Leg
690:741
681:ICD
671:Q05
662:ICD
615:doi
611:140
574:PMC
564:doi
523:PMC
490:doi
440:doi
396:doi
361:doi
299:doi
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