691:, particularly the acquired form of pure red cell aplasia, are the most common types. Radial aplasia affects about one in every 30,000 newborns. Radial ray deficiencies, such as radial aplasia, are one of the most common congenital arm disabilities. Congenital pure red cell aplasia is uncommon, with an estimated 5 to 7 cases per million births. The acquired form is more prevalent.
280:
is a type of PRCA that occurs at birth. PRCA can be acquired as a primary disorder or as a result of another disorder. Immunosuppressive drugs, particularly corticosteroids, will usually result in a temporary or permanent remission. The final outcome is primarily determined by the underlying
538:
appearance of an absent optic nerve head and retinal vessels, as well as other ocular and nonocular abnormalities. Bilateral ONA has been linked to systemic anomalies, whereas unilateral ONA is seen in otherwise healthy people.
298:
is a condition in which some or large portions of the skin is missing at birth. The disorder is most commonly seen on the scalp, often as a solitary lesion without other abnormalities. The condition may be caused by
444:
in aplasia. Because bilateral pulmonary aplasia is not feasible, it is usually unilateral. It is frequently associated with other congenital abnormalities, primarily cardiovascular, and has been shown to occur with the
340:
does not form. The radius runs from your elbow to your wrist, where your thumb is located. With radial aplasia, the arm can look misshapen and bent. The thumb could also be absent or shorter than usual.
203:
422:
confirms the diagnosis of SCO syndrome. Although there is no effective treatment at the moment, assisted reproductive technology may help some men with SCO syndrome reproduce.
720:
391:
and found to produce no sperm. Other signs and symptoms are uncommon, yet in some cases, an underlying cause of SCO syndrome, such as
436:
Pulmonary aplasia is a rare congenital pathology characterized by the unilateral or bilateral absence of lung tissue. It is distinct from
531:
751:
152:
308:
675:
The majority of cases of aplastic anemia are idiopathic, and seeking a possible cause is frequently unproductive.
1227:
376:
277:
770:
350:
372:
1242:
458:
387:. Men often learn they have Sertoli cell-only syndrome between the ages of 20 and 40 when they are checked for
481:
295:
290:
261:
913:
800:
501:
312:
1081:
688:
519:
300:
257:
252:
145:
238:
is the failure of the body to produce blood cells. It may occur at any time, and has multiple causes.
392:
316:
1237:
557:
446:
360:
1107:
589:
437:
431:
407:
399:
970:
1174:
1156:
1034:
1016:
941:
933:
894:
876:
828:
820:
747:
642:
573:
527:
489:
469:
415:
273:
1232:
1164:
1146:
1024:
1008:
925:
884:
866:
812:
638:
585:
229:
171:
138:
1133:
Sadasivan, KSamyukta; Pawar, Neelam; Ravindran, Meenakshi; Rengappa, Ramakrishnan (2018).
553:
548:
384:
235:
225:
1196:
1053:
995:
Ghanami Gashti, Nasrin; Sadighi Gilani, Mohammad Ali; Abbasi, Mehdi (January 11, 2021).
1169:
1134:
1029:
996:
889:
854:
684:
581:
333:
328:
265:
210:
929:
816:
1221:
608:
may be present at the onset. The following are examples of specific manifestations:
526:
in an otherwise normal eye. Clinically, the condition is characterized by a lack of
871:
624:
577:
561:
535:
403:
380:
368:
364:
221:
110:(reduced functionality of an organ, with decrease in the number or volume of cells)
476:
levels. Patients present with chronic or recurring infections in infancy, such as
355:
Sertoli cell-only syndrome (SCOS), also known as germ cell aplasia, is defined by
232:
is wholly or largely absent. It is caused by a defect in a developmental process.
964:
962:
705:
668:
664:
652:
593:
588:
levels. Aplastic anemia patients present with symptoms related to a decrease in
565:
507:
477:
388:
356:
113:
92:
68:
52:
1012:
710:
511:
304:
119:
80:
74:
1160:
1020:
937:
880:
824:
1151:
1082:"Sertoli cell-only syndrome — National Organization for Rare Disorders"
1054:"Sertoli-Cell-Only Syndrome: Practice Essentials, Pathophysiology, Etiology"
914:"Aplasia cutis congenita: A clinical review and proposal for classification"
715:
660:
656:
605:
125:
86:
62:
58:
40:
1178:
1038:
898:
945:
832:
774:
646:
620:
485:
473:
441:
411:
17:
700:
632:
628:
465:
128:(any degenerative disorder resulting from improper or faulty nutrition)
107:
77:(congenital below-average number of cells, especially when inadequate)
616:
612:
597:
569:
515:
462:
419:
337:
269:
402:, however, causes may include deletions of genetic material on
260:(PRCA) is caused by the selective destruction or inhibition of
461:
with autosomal or X-linked recessive inheritance, characterized by
601:
43:(structural differentiation loss within a cell or group of cells).
523:
997:"Sertoli cell-only syndrome: etiology and clinical management"
189:
1197:"Aplastic Anemia: Practice Essentials, Background, Etiology"
969:
Cleveland Clinic medical professional (September 20, 2023).
596:. The onset is gradual, and the first symptom is frequently
468:
in the absence of other congenital abnormalities, profound
192:
186:
174:
1007:(3). Springer Science and Business Media LLC: 559–572.
794:
792:
746:. Baltimore: Williams and Wilkins. 1990. p. 106.
1190:
1188:
375:
and aid in sperm generation. These cells respond to
183:
180:
177:
440:, which, while similar, has a short-blind ending
104:Abiotrophy (loss in vitality of organ or tissue)
418:, and a history of severe trauma. A testicular
918:Journal of the American Academy of Dermatology
1001:Journal of Assisted Reproduction and Genetics
765:
763:
146:
8:
1112:Genetic and Rare Diseases Information Center
865:(1). American Society of Hematology: 51–56.
122:(decrease in the volume of cells or tissues)
116:(increase in the volume of cells or tissues)
506:Optic nerve aplasia (ONA) is a congenital
153:
139:
29:
1168:
1150:
1028:
971:"Aplasia: Definition, Types & Causes"
888:
870:
738:
736:
1086:National Organization for Rare Disorders
721:List of biological development disorders
27:Absence of an organ or tissue from birth
732:
580:can be seen in conjunction with stress
32:
1076:
1074:
510:anomaly defined as the absence of the
1052:Kim, Edward David (August 17, 2023).
853:Means, Robert T. (December 2, 2016).
560:syndrome characterized by peripheral
7:
1195:Bakhshi, Sameer (October 24, 2023).
1135:"Optic nerve aplasia: A case series"
371:contribute to the formation of the
319:, or other malformation syndromes.
276:and can be chronic or acute.
95:(development of new cell function)
25:
801:"Pure red-cell aplasia: a review"
336:is a condition in which the
472:, and normal or increased serum
170:
49:(organ or part of organ missing)
1139:Indian Journal of Ophthalmology
398:Most cases of SCO syndrome are
872:10.1182/asheducation-2016.1.51
395:, may produce other symptoms.
1:
930:10.1016/s0190-9622(86)70082-0
817:10.1016/s0268-960x(96)90017-x
683:Aplasia is a rare condition.
744:Stedman's medical dictionary
520:ganglion cells of the retina
414:, previous exposure to
410:area. Other factors include
377:follicle-stimulating hormone
924:(4). Elsevier BV: 646–660.
773:. Drugs.com. Archived from
379:, which is secreted by the
1259:
1013:10.1007/s10815-021-02063-x
912:Frieden, Ilona J. (1986).
546:
499:
429:
412:chemical or toxin exposure
406:regions, particularly the
351:Sertoli cell-only syndrome
348:
345:Sertoli cell-only syndrome
326:
288:
250:
61:(change in cell or tissue
55:(connective tissue growth)
811:(1). Elsevier BV: 20–28.
568:hypoplasia. Although the
532:afferent pupillary defect
457:Thymic aplasia is a rare
313:chromosomal abnormalities
311:, or it may be caused by
268:. It is characterized by
83:(conversion in cell type)
771:"Stedman's > aplasia"
482:urinary tract infections
459:primary immunodeficiency
89:(abnormal proliferation)
71:(proliferation of cells)
1152:10.4103/ijo.ijo_1108_17
1145:(5). Medknow: 717–719.
855:"Pure red cell aplasia"
480:, skin, pulmonary, and
309:intrauterine infections
296:Aplasia cutis congenita
291:Aplasia cutis congenita
285:Aplasia cutis congenita
278:Diamond–Blackfan anemia
600:or bleeding, though a
502:Optic nerve hypoplasia
363:are lined solely with
689:pure red cell aplasia
359:where the testicular
317:ectodermal dysplasias
301:epidermolysis bullosa
258:Pure red cell aplasia
253:Pure red cell aplasia
247:Pure red cell aplasia
393:Klinefelter syndrome
373:blood-testis barrier
361:seminiferous tubules
262:erythroid progenitor
220:, "formation") is a
1228:Medical terminology
1108:"About the Disease"
558:bone marrow failure
496:Optic nerve aplasia
33:-plasia and -trophy
1201:Medscape Reference
1058:Medscape Reference
799:Erslev, A (1996).
655:: Can cause overt
635:, or foot swelling
592:production in the
590:hematopoietic cell
438:pulmonary agenesis
432:Pulmonary agenesis
408:azoospermia factor
1114:. January 8, 2021
643:gingival bleeding
490:failure to thrive
470:T-cell deficiency
426:Pulmonary aplasia
416:radiation therapy
274:reticulocytopenia
163:
162:
16:(Redirected from
1250:
1212:
1211:
1209:
1207:
1192:
1183:
1182:
1172:
1154:
1130:
1124:
1123:
1121:
1119:
1104:
1098:
1097:
1095:
1093:
1078:
1069:
1068:
1066:
1064:
1049:
1043:
1042:
1032:
992:
986:
985:
983:
981:
975:Cleveland Clinic
966:
957:
956:
954:
952:
909:
903:
902:
892:
874:
850:
844:
843:
841:
839:
796:
787:
786:
784:
782:
767:
758:
757:
740:
647:petechial rashes
639:Thrombocytopenia
602:high temperature
586:fetal hemoglobin
528:light perception
512:optic nerve head
486:chronic diarrhea
447:VACTERL syndrome
216:, "not", "no" +
208:
207:
206:
205:
198:
195:
194:
191:
188:
185:
182:
179:
176:
155:
148:
141:
30:
21:
1258:
1257:
1253:
1252:
1251:
1249:
1248:
1247:
1243:Blood disorders
1218:
1217:
1216:
1215:
1205:
1203:
1194:
1193:
1186:
1132:
1131:
1127:
1117:
1115:
1106:
1105:
1101:
1091:
1089:
1088:. June 16, 2022
1080:
1079:
1072:
1062:
1060:
1051:
1050:
1046:
994:
993:
989:
979:
977:
968:
967:
960:
950:
948:
911:
910:
906:
852:
851:
847:
837:
835:
798:
797:
790:
780:
778:
769:
768:
761:
754:
742:
741:
734:
729:
697:
681:
554:Aplastic anemia
551:
549:Aplastic anemia
545:
543:Aplastic anemia
518:blood vessels,
504:
498:
455:
434:
428:
385:spermatogenesis
353:
347:
331:
325:
293:
287:
266:precursor cells
255:
249:
244:
236:Aplastic anemia
202:
201:
200:
173:
169:
159:
28:
23:
22:
15:
12:
11:
5:
1256:
1254:
1246:
1245:
1240:
1235:
1230:
1220:
1219:
1214:
1213:
1184:
1125:
1099:
1070:
1044:
987:
958:
904:
845:
788:
777:on 3 June 2009
759:
752:
731:
730:
728:
725:
724:
723:
718:
713:
708:
703:
696:
693:
685:Radial aplasia
680:
677:
673:
672:
650:
641:: Mucosal and
636:
582:erythropoiesis
547:Main article:
544:
541:
497:
494:
474:immunoglobulin
454:
453:Thymic aplasia
451:
427:
424:
349:Main article:
346:
343:
334:Radial aplasia
329:Radial aplasia
327:Main article:
324:
323:Radial aplasia
321:
289:Main article:
286:
283:
251:Main article:
248:
245:
243:
240:
161:
160:
158:
157:
150:
143:
135:
132:
131:
130:
129:
123:
117:
111:
105:
99:
98:
97:
96:
90:
84:
78:
72:
66:
56:
50:
44:
35:
34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
1255:
1244:
1241:
1239:
1236:
1234:
1231:
1229:
1226:
1225:
1223:
1202:
1198:
1191:
1189:
1185:
1180:
1176:
1171:
1166:
1162:
1158:
1153:
1148:
1144:
1140:
1136:
1129:
1126:
1113:
1109:
1103:
1100:
1087:
1083:
1077:
1075:
1071:
1059:
1055:
1048:
1045:
1040:
1036:
1031:
1026:
1022:
1018:
1014:
1010:
1006:
1002:
998:
991:
988:
976:
972:
965:
963:
959:
947:
943:
939:
935:
931:
927:
923:
919:
915:
908:
905:
900:
896:
891:
886:
882:
878:
873:
868:
864:
860:
856:
849:
846:
834:
830:
826:
822:
818:
814:
810:
806:
805:Blood Reviews
802:
795:
793:
789:
776:
772:
766:
764:
760:
755:
753:0-683-07916-6
749:
745:
739:
737:
733:
726:
722:
719:
717:
714:
712:
709:
707:
704:
702:
699:
698:
694:
692:
690:
686:
678:
676:
670:
666:
662:
658:
654:
651:
648:
645:, as well as
644:
640:
637:
634:
630:
626:
622:
618:
614:
611:
610:
609:
607:
603:
599:
595:
591:
587:
583:
579:
575:
571:
567:
563:
559:
555:
550:
542:
540:
537:
533:
529:
525:
521:
517:
513:
509:
503:
495:
493:
491:
487:
483:
479:
475:
471:
467:
464:
460:
452:
450:
448:
443:
439:
433:
425:
423:
421:
417:
413:
409:
405:
401:
396:
394:
390:
386:
382:
378:
374:
370:
369:Sertoli cells
366:
365:sertoli cells
362:
358:
352:
344:
342:
339:
335:
330:
322:
320:
318:
314:
310:
306:
302:
297:
292:
284:
282:
279:
275:
271:
267:
263:
259:
254:
246:
241:
239:
237:
233:
231:
227:
223:
219:
215:
212:
204:
197:
167:
156:
151:
149:
144:
142:
137:
136:
134:
133:
127:
124:
121:
118:
115:
112:
109:
106:
103:
102:
101:
100:
94:
91:
88:
85:
82:
79:
76:
73:
70:
67:
64:
60:
57:
54:
51:
48:
45:
42:
39:
38:
37:
36:
31:
19:
1206:November 14,
1204:. Retrieved
1200:
1142:
1138:
1128:
1118:November 14,
1116:. Retrieved
1111:
1102:
1090:. Retrieved
1085:
1061:. Retrieved
1057:
1047:
1004:
1000:
990:
980:November 14,
978:. Retrieved
974:
951:November 13,
949:. Retrieved
921:
917:
907:
862:
858:
848:
838:November 13,
836:. Retrieved
808:
804:
779:. Retrieved
775:the original
743:
682:
679:Epidemiology
674:
659:, recurring
649:, may occur.
625:palpitations
578:macrocytosis
562:pancytopenia
552:
524:nerve fibers
522:, and optic
505:
456:
435:
404:Y-chromosome
397:
383:and aids in
381:hypothalamus
354:
332:
294:
256:
234:
222:birth defect
217:
213:
165:
164:
46:
1092:October 10,
1063:October 10,
781:17 February
706:Hyperplasia
653:Neutropenia
594:bone marrow
584:and raised
572:is usually
566:bone marrow
508:optic nerve
478:candidiasis
389:infertility
357:azoospermia
303:, specific
114:Hypertrophy
93:Prosoplasia
69:Hyperplasia
53:Desmoplasia
1238:Embryology
1222:Categories
859:Hematology
727:References
711:Hypoplasia
669:pharyngeal
661:infections
657:infections
606:infections
574:normocytic
500:See also:
430:See also:
400:idiopathic
305:teratogens
281:disorder.
120:Hypotrophy
81:Metaplasia
75:Hypoplasia
1161:0301-4738
1021:1058-0468
938:0190-9622
881:1520-4391
825:0268-960X
716:Neoplasia
224:where an
126:Dystrophy
87:Neoplasia
63:phenotype
59:Dysplasia
41:Anaplasia
1179:29676329
1039:33428073
899:27913462
695:See also
621:headache
534:, and a
442:bronchus
18:Aplastic
1233:Anatomy
1170:5939177
1030:7910341
946:3514708
890:6142432
833:8861276
701:Atrophy
671:ulcers.
633:fatigue
629:dyspnea
576:, mild
516:retinal
466:atrophy
209:; from
166:Aplasia
108:Atrophy
47:Aplasia
1177:
1167:
1159:
1037:
1027:
1019:
944:
936:
897:
887:
879:
831:
823:
750:
617:Pallor
613:Anemia
598:anemia
570:anemia
536:fundus
514:, the
488:, and
463:thymus
420:biopsy
338:radius
270:anemia
230:tissue
218:plasis
665:mouth
663:, or
556:is a
530:, an
307:, or
242:Types
226:organ
211:Greek
199:
1208:2023
1175:PMID
1157:ISSN
1120:2023
1094:2023
1065:2023
1035:PMID
1017:ISSN
982:2023
953:2023
942:PMID
934:ISSN
895:PMID
877:ISSN
863:2016
840:2023
829:PMID
821:ISSN
783:2010
748:ISBN
687:and
667:and
564:and
272:and
1165:PMC
1147:doi
1025:PMC
1009:doi
926:doi
885:PMC
867:doi
813:doi
604:or
264:or
228:or
1224::
1199:.
1187:^
1173:.
1163:.
1155:.
1143:66
1141:.
1137:.
1110:.
1084:.
1073:^
1056:.
1033:.
1023:.
1015:.
1005:38
1003:.
999:.
973:.
961:^
940:.
932:.
922:14
920:.
916:.
893:.
883:.
875:.
861:.
857:.
827:.
819:.
809:10
807:.
803:.
791:^
762:^
735:^
631:,
627:,
623:,
619:,
615::
492:.
484:,
449:.
367:.
315:,
187:eɪ
1210:.
1181:.
1149::
1122:.
1096:.
1067:.
1041:.
1011::
984:.
955:.
928::
901:.
869::
842:.
815::
785:.
756:.
214:a
196:/
193:ə
190:ʒ
184:l
181:p
178:ˈ
175:ə
172:/
168:(
154:e
147:t
140:v
65:)
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.