138:
72:
48:
200:. Incontinence may also require some type of continence control system (e.g., self-catheterization) to be utilized. The condition often impacts the formation of the knees, legs or feet that is sometimes addressed through surgery. For some with tightly webbed, bent knees or knees that are fused straight, disarticulation surgery at the knee may be a viable option to maximize mobility options.
146:
mesoderm migration is disturbed. This disturbance results in symptoms varying from minor lesions of the lower vertebrae to more severe symptoms such as complete fusion of the lower limbs. While the exact cause is unknown, it has been speculated that the condition has a combination of environmental and genetic causes, and that various types of the condition may have differing causes.
208:
control is usually abandoned in favor of faster and easier wheelchair mobility as the child's weight and age increase. Children may walk on their hands and generally are able to climb and move about to accomplish whatever they need and want to accomplish. Children more mildly affected may have normal
128:
regions of the spine to absence of the lower vertebrae, pelvis and parts of the thoracic and/or lumbar areas of the spine. In some cases, where only a small part of the spine is absent, there may be no outward sign of the condition. In cases where more substantial areas of the spine are absent, there
203:
Before more comprehensive medical treatment was available, full amputation of the legs at the hip was often performed. More recently, the amputation (actually a disarticulation because no cutting of the bone is involved) is done at the knee for those who have bent knee positions and webbing between
161:
mellitus. Other causes are presumably involved, as demonstrated by the rare overall incidence of caudal regression syndrome (1:60,000) compared to diabetes; however, the condition does have a greatly increased incidence among infants born to mothers with diabetes, estimated at 1 in 350 newborns of
145:
The condition arises from some factor or set of factors present during approximately the 3rd week to 7th week of fetal development. Formation of the sacrum/lower back and corresponding nervous system is usually nearing completion by the 4th week of development. Due to abnormal gastrulation, the
188:
There are four levels (or types) of malformation. The least severe indicates partial deformation (unilateral) of the sacrum. The second level indicates a bilateral (uniform) deformation. The most severe types involve a total absence of the sacrum.
115:
Some babies are born with very small differences compared to typical development, and others have significant changes. Most grow up to be otherwise typical adults who have difficulty with walking and incontinence.
602:
204:
thigh and calf to enable more ease of mobility and better seating. Some children with knee disarticulation use prosthetic legs to walk. Prosthetics for children without substantial hip and
212:
There is typically no cognitive impairment associated with this disability. Adults with this disability live independently, attend college, and have careers in various fields. In 2012,
364:
Sonek JD, Gabbe SG, Landon MB, Stempel LE, Foley MR, Shubert-Moell K (March 1990). "Antenatal diagnosis of sacral agenesis syndrome in a pregnancy complicated by diabetes mellitus".
702:
141:
Antero-posterior radiographic view, showing missing ribs, absent lumbosacral vertebrae, hypoplastic pelvis and "frog-like" position of the lower extremities
546:
1177:
337:
695:
951:
688:
416:"Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review"
758:
306:, American wheelchair racer and swimmer, founder and President of iSACRA (International Caudal Regression Syndrome Association)
753:
617:
528:
853:
314:
966:
891:
991:
402:
279:
956:
340:, a transgender woman who is a social media personality and musician who appeared on RuPaul's Drag Race season 4.
17:
129:
may be fused, webbed or smaller lower extremities and paralysis. Bowel and bladder control is usually affected.
1053:
1162:
901:
157:, and hypoplasia of the lower extremities) is a well-established congenital anomaly associated with maternal
192:
Depending on the type of sacral agenesis, bowel or urinary bladder deficiencies may be present. A permanent
961:
858:
748:
241:, American track athlete and wrestler, 2022 Guinness World Record holder (20 m hand sprint in 4.78 seconds)
1167:
1081:
873:
843:
668:
565:
285:
1017:
823:
813:
768:
1012:
896:
112:
partition of the spine—is abnormal. It occurs at a rate of approximately one per 60,000 live births.
71:
971:
808:
720:
109:
1157:
881:
330:, a Qatari businessman, opened the 2022 Mondial ceremony as well as the 2022 FIFA World Cup with
886:
711:
209:
gait and no need for assistive devices for walking. Others may walk with bracing or crutches.
1120:
1108:
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1064:
788:
728:
1076:
1060:
1048:
1036:
8:
943:
931:
343:
297:
149:
Sacral agenesis syndrome (a type of caudal regression syndrome involving agenesis of the
97:
137:
778:
738:
657:
496:
442:
415:
273:
173:
in the Hb9 (also called HlxB9) gene (shown by Sally Ann Lynch, 1995, Nature
Genetics).
166:
514:
180:("Mermaid syndrome") but has now been determined not to be related to this condition.
1041:
828:
818:
743:
628:
488:
447:
381:
377:
291:
255:
217:
101:
60:
500:
1125:
1101:
981:
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838:
783:
680:
478:
437:
427:
373:
327:
197:
105:
65:
324:, Mountain climber, "Man Climbs Mt. Kilimanjaro On Hands". ABC News. 22 June 2012.
1172:
1113:
1097:
1085:
1069:
996:
863:
848:
833:
250:
205:
124:
This condition exists in a variety of forms, ranging from partial absence of the
403:
https://medlineplus.gov/genetics/condition/caudal-regression-syndrome/#frequency
1134:
986:
733:
633:
331:
303:
244:
611:
1151:
800:
267:
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906:
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321:
309:
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150:
483:
466:
385:
288:, two-times Olympic champion and two-times world champion in sledge hockey
926:
294:, Fijian wheelchair table tennis medallist and disability rights activist
177:
594:
921:
261:
238:
221:
89:
652:
193:
125:
467:"Caudal Regression Syndrome in Twin Pregnancy With Type II Diabetes"
414:
Al Kaissi, Ali; Klaushofer, Klaus; Grill, Franz (19 December 2008).
910:
773:
663:
170:
158:
247:, New Zealand para-swimmer and Rio 2016 Paralympic bronze medalist
47:
622:
606:
154:
93:
216:, a man with sacral agenesis and both legs amputated, climbed
165:
The dominant inherited sacral agenesis (also referred to as
566:"'American Horror Story' actress Rose Siggins dead at 43"
300:, first female Australian sit-skier at Winter Paralympics
413:
253:, played a fictionalized version of himself in the film
363:
224:
broke the
Guinness World Record 20 m running on hands.
547:"Zion Clark achieves record for fastest 20m on hands"
710:
584:
1149:
564:Karimi, Faith; Sutton, Joe (13 December 2015).
696:
397:
395:
563:
176:It was previously thought to be related to
41:Sacral regression sequence, Sacral agenesis
703:
689:
392:
70:
46:
482:
441:
431:
401:Medline Plus. Caudal Regression Syndrome.
465:Zaw, Win; Stone, David G. (March 2002).
464:
136:
220:using only his hands. In 2021, athlete
14:
1178:Syndromes affecting the nervous system
1150:
227:
684:
529:"Man Climbs Mt. Kilimanjaro On Hands"
346:, American rapper and record producer
119:
96:), is a rare birth defect. It is a
24:
169:) is very often correlated with a
25:
1189:
952:Bannayan–Riley–Ruvalcaba syndrome
580:
315:American Horror Story: Freak Show
276:, American philosopher and author
232:
196:may be necessary in the case of
264:, American freak show performer
759:Bonnet–Dechaume–Blanc syndrome
557:
539:
521:
507:
458:
407:
357:
13:
1:
754:Sakati–Nyhan–Tisdale syndrome
350:
270:, Australian wheelchair racer
992:Tatton-Brown–Rahman syndrome
962:Benign symmetric lipomatosis
378:10.1016/0002-9378(90)91015-5
183:
7:
1082:Branchio-oto-renal syndrome
957:Beckwith–Wiedemann syndrome
10:
1194:
1054:Zimmermann–Laband syndrome
1006:Laurence–Moon–Bardet–Biedl
967:Klippel–Trénaunay syndrome
917:Caudal regression syndrome
892:Klippel–Trénaunay syndrome
854:Smith–Lemli–Opitz syndrome
824:Cornelia de Lange syndrome
282:, American football player
82:Caudal regression syndrome
33:Caudal regression syndrome
1026:
1005:
942:
902:Rubinstein–Taybi syndrome
872:
799:
719:
643:
588:
59:
54:
45:
37:
32:
972:Neurofibromatosis type I
859:Snyder–Robinson syndrome
809:1q21.1 deletion syndrome
749:Saethre–Chotzen syndrome
132:
882:Adducted thumb syndrome
844:Silver–Russell syndrome
471:Journal of Perinatology
433:10.1186/1757-1626-1-407
162:mothers with diabetes.
1018:Laurence–Moon syndrome
814:Aarskog–Scott syndrome
769:Baller–Gerold syndrome
712:Congenital abnormality
551:Guinness World Records
366:Am. J. Obstet. Gynecol
142:
1013:Bardet–Biedl syndrome
897:Nail–patella syndrome
789:Pierre Robin sequence
729:Acrocephalosyndactyly
484:10.1038/sj.jp.7210614
140:
1163:Congenital disorders
944:Overgrowth syndromes
553:. 22 September 2021.
932:VACTERL association
298:Victoria Pendergast
228:Society and culture
98:congenital disorder
1168:Skeletal disorders
887:Holt–Oram syndrome
779:Goldenhar syndrome
739:Carpenter syndrome
644:External resources
274:Chloé Cooper Jones
167:Currarino syndrome
143:
120:Signs and symptoms
1145:
1144:
1042:Feingold syndrome
829:Dubowitz syndrome
819:Cockayne syndrome
744:Pfeiffer syndrome
678:
677:
292:Sainimili Naivalu
218:Mount Kilimanjaro
102:fetal development
79:
78:
27:Medical condition
16:(Redirected from
1185:
1126:Donohue syndrome
1102:Timothy syndrome
982:Proteus syndrome
977:Perlman syndrome
839:Robinow syndrome
784:Moebius syndrome
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328:Ghanim Al-Muftah
198:imperforate anus
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66:Medical genetics
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1114:Marfan syndrome
1098:Keutel syndrome
1086:CHARGE syndrome
1070:Fraser syndrome
1028:
1027:Combined/other,
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1001:
997:Weaver syndrome
938:
868:
864:Turner syndrome
849:Seckel syndrome
834:Noonan syndrome
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535:. 22 June 2012.
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251:Kenny Easterday
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86:sacral agenesis
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55:Sacral agenesis
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18:Sacral agenesis
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12:
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1158:Rare syndromes
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1135:Fryns syndrome
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987:Sotos syndrome
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589:Classification
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581:External links
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477:(2): 171–174.
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515:"Sirenomelia"
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420:Cases Journal
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721:Craniofacial
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372:(3): 806–8.
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322:Spencer West
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310:Rose Siggins
280:Bobby Martin
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214:Spencer West
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151:lumbar spine
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123:
114:
85:
81:
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1029:known locus
927:Sirenomelia
312:, actress (
286:Kevin McKee
178:sirenomelia
38:Other names
1152:Categories
922:Ectromelia
629:DiseasesDB
426:(1): 407.
351:References
262:Johnny Eck
239:Zion Clark
222:Zion Clark
90:hypoplasia
1131:Multiple
714:syndromes
653:eMedicine
194:colostomy
184:Prognosis
126:tail bone
61:Specialty
911:mesoderm
774:Cyclopia
664:Orphanet
533:ABC News
501:10374738
493:11896527
452:19099562
344:Ethereal
171:mutation
159:diabetes
443:2614953
386:2180307
92:of the
1173:Sacrum
765:Other
623:600145
499:
491:
450:
440:
384:
155:coccyx
110:caudal
94:sacrum
68:
874:Limbs
634:31157
612:Q89.8
497:S2CID
256:Kenny
206:trunk
133:Cause
108:—the
106:spine
84:, or
669:3027
618:OMIM
489:PMID
448:PMID
382:PMID
88:(or
603:ICD
570:CNN
479:doi
438:PMC
428:doi
374:doi
370:162
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20:)
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