176:
137:
29:
112:
made by this gene is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis, type 2.
124:, and two copies of the gene—one from each parent—must be inherited for a child to be born with the disorder. The parents of a child with an autosomal recessive disorder are not affected by disorder, but are carriers of one copy of the altered gene.
287:
868:
765:
384:
446:
1256:
1019:
1175:
1395:
861:
469:
819:
1294:
793:
831:
674:
655:
479:
451:
377:
299:
824:
798:
854:
1038:
897:
423:
1375:
370:
1243:
1161:
1094:
598:
542:
474:
547:
1323:
973:
664:
709:
1141:
1066:
1005:
785:
1001:
310:
92:
The signs and symptoms of atelosteogenesis, type 2, are similar to those of another skeletal disorder called
1308:
1251:
1189:
1060:
945:
758:
695:
1400:
959:
725:
646:
350:
1337:
1266:
1218:
881:
775:
563:
441:
401:
393:
93:
846:
255:
GeneReviews/NCBI/NIH/UW entry on
Atelosteogenesis Type 2, McAlister Dysplasia, de la Chapelle Dysplasia
1024:
814:
592:
530:
117:
732:
1133:
104:
Atelosteogenesis, type 2 is one of a spectrum of skeletal disorders caused by mutations in the
1147:
688:
634:
321:
1280:
1052:
877:
712:
623:
568:
537:
1248:
1080:
931:
903:
753:
720:
502:
745:
683:
629:
583:
497:
489:
406:
175:
136:
1389:
1204:
507:
82:
259:
315:
1331:
614:
326:
1108:
987:
433:
254:
81:. This disorder is also characterized by an opening in the roof of the mouth (
54:
610:
461:
415:
46:
36:
Atelosteogenesis, type II has an autosomal recessive pattern of inheritance.
28:
573:
362:
345:
121:
86:
279:
1317:
1302:
1288:
1274:
1237:
1212:
1198:
1183:
1169:
1155:
1127:
1074:
1013:
967:
917:
742:
109:
105:
78:
85:), distinctive facial features, an inward- and downward-turning foot (
1102:
1088:
1046:
1032:
995:
981:
911:
291:
53:
development. It is rare, and infants with the disorder are usually
953:
939:
925:
58:
1361:
1356:
524:
304:
219:
50:
850:
366:
170:
131:
74:
70:
96:. Atelosteogenesis, type 2 tends to be more severe, however.
120:
disorder, which means the defective gene is located on an
242:
220:"OMIM Entry - # 256050 - ATELOSTEOGENESIS, TYPE II; AO2"
89:), and unusually positioned thumbs (hitchhiker thumbs).
186:
147:
269:
1348:
1229:
1119:
889:
807:
784:
741:
708:
673:
654:
645:
609:
582:
562:
516:
488:
460:
432:
414:
400:
336:
273:
21:
241:This article incorporates public domain text from
766:Autosomal recessive multiple epiphyseal dysplasia
69:Infants born with this condition have very short
862:
378:
8:
77:, a narrow chest, and a prominent, rounded
869:
855:
847:
651:
579:
411:
385:
371:
363:
270:
27:
18:
1362:Mitochondrial pyruvate carrier deficiency
1257:Recessive multiple epiphyseal dysplasia
1020:Congenital endothelial dystrophy type 2
260:OMIM entries on Atelosteogenesis Type 2
211:
470:Spondyloepiphyseal dysplasia congenita
447:Jansen's metaphyseal chondrodysplasia
243:The U.S. National Library of Medicine
7:
794:Rhizomelic chondrodysplasia punctata
480:Otospondylomegaepiphyseal dysplasia
452:Schmid metaphyseal chondrodysplasia
14:
1067:Thyroid dyshormonogenesis type 1
820:Short rib – polydactyly syndrome
174:
135:
1244:Multiple epiphyseal dysplasia 4
1039:Glucose-galactose malabsorption
825:Majewski's polydactyly syndrome
1:
1396:Autosomal recessive disorders
1176:Allan–Herndon–Dudley syndrome
1095:Lysinuric protein intolerance
599:Hereditary multiple exostoses
543:Polyostotic fibrous dysplasia
475:Multiple epiphyseal dysplasia
1324:Acrodermatitis enteropathica
974:Arterial tortuosity syndrome
832:Léri–Weill dyschondrosteosis
1006:Hereditary elliptocytosis 4
1417:
1002:Hereditary spherocytosis 4
799:Conradi–Hünermann syndrome
424:Camurati–Engelmann disease
1371:
1262:Atelosteogenesis, type II
786:Chondrodysplasia punctata
771:Atelosteogenesis, type II
43:Atelosteogenesis, type II
35:
26:
22:Atelosteogenesis, type II
548:McCune–Albright syndrome
45:is a severe disorder of
946:Fanconi-Bickel syndrome
696:Thanatophoric dysplasia
960:Fructose malabsorption
665:Antley–Bixler syndrome
647:Growth factor receptor
394:Osteochondrodysplasias
183:This section is empty.
144:This section is empty.
1376:solute carrier family
1338:African iron overload
1267:Diastrophic dysplasia
776:Diastrophic dysplasia
442:Metaphyseal dysplasia
116:This condition is an
94:diastrophic dysplasia
1309:Von Gierke's disease
1190:Von Gierke's disease
57:; those who survive
815:Fibrochondrogenesis
593:osteochondromatosis
531:Boomerang dysplasia
118:autosomal recessive
1025:Fuchs' dystrophy 4
733:Hypochondrogenesis
337:External resources
65:Symptoms and signs
1383:
1382:
1148:Gitelman syndrome
904:Episodic ataxia 6
844:
843:
840:
839:
704:
703:
689:Hypochondroplasia
635:Maffucci syndrome
558:
557:
360:
359:
203:
202:
164:
163:
40:
39:
16:Medical condition
1408:
1281:Pendred syndrome
1053:Renal glycosuria
878:Genetic disorder
871:
864:
857:
848:
746:sulfation defect
713:collagen disease
652:
624:enchondromatosis
580:
569:chondrodystrophy
564:Chondrodysplasia
538:Opsismodysplasia
412:
387:
380:
373:
364:
271:
234:
233:
231:
230:
216:
198:
195:
185:You can help by
178:
171:
159:
156:
146:You can help by
139:
132:
61:die soon after.
31:
19:
1416:
1415:
1411:
1410:
1409:
1407:
1406:
1405:
1386:
1385:
1384:
1379:
1367:
1344:
1249:Achondrogenesis
1225:
1134:Crohn's disease
1115:
1081:Hartnup disease
932:De Vivo disease
885:
875:
845:
836:
803:
780:
754:Achondrogenesis
737:
721:Achondrogenesis
700:
669:
641:
605:
571:
567:
554:
517:Other/ungrouped
512:
503:Osteopoikilosis
484:
456:
428:
405:
396:
391:
361:
356:
355:
332:
331:
282:
268:
251:
249:Further reading
238:
237:
228:
226:
218:
217:
213:
208:
199:
193:
190:
169:
160:
154:
151:
130:
102:
67:
17:
12:
11:
5:
1414:
1412:
1404:
1403:
1398:
1388:
1387:
1381:
1380:
1372:
1369:
1368:
1366:
1365:
1352:
1350:
1346:
1345:
1343:
1342:
1341:
1340:
1328:
1327:
1326:
1314:
1313:
1312:
1299:
1298:
1297:
1285:
1284:
1283:
1271:
1270:
1269:
1264:
1259:
1254:
1246:
1233:
1231:
1227:
1226:
1224:
1223:
1222:
1221:
1209:
1208:
1207:
1195:
1194:
1193:
1180:
1179:
1178:
1166:
1165:
1164:
1152:
1151:
1150:
1138:
1137:
1136:
1123:
1121:
1117:
1116:
1114:
1113:
1112:
1111:
1099:
1098:
1097:
1085:
1084:
1083:
1071:
1070:
1069:
1057:
1056:
1055:
1043:
1042:
1041:
1029:
1028:
1027:
1022:
1010:
1009:
1008:
992:
991:
990:
978:
977:
976:
964:
963:
962:
950:
949:
948:
936:
935:
934:
922:
921:
920:
908:
907:
906:
893:
891:
887:
886:
882:Solute carrier
876:
874:
873:
866:
859:
851:
842:
841:
838:
837:
835:
834:
829:
828:
827:
817:
811:
809:
808:Other dwarfism
805:
804:
802:
801:
796:
790:
788:
782:
781:
779:
778:
773:
768:
763:
762:
761:
750:
748:
739:
738:
736:
735:
730:
729:
728:
717:
715:
706:
705:
702:
701:
699:
698:
693:
692:
691:
684:Achondroplasia
680:
678:
671:
670:
668:
667:
661:
659:
649:
643:
642:
640:
639:
638:
637:
632:
630:Ollier disease
619:
617:
607:
606:
604:
603:
602:
601:
588:
586:
584:Osteochondroma
577:
560:
559:
556:
555:
553:
552:
551:
550:
540:
535:
534:
533:
520:
518:
514:
513:
511:
510:
505:
500:
498:Raine syndrome
494:
492:
490:Osteosclerosis
486:
485:
483:
482:
477:
472:
466:
464:
458:
457:
455:
454:
449:
444:
438:
436:
430:
429:
427:
426:
420:
418:
409:
407:osteodystrophy
402:Osteodysplasia
398:
397:
392:
390:
389:
382:
375:
367:
358:
357:
354:
353:
341:
340:
338:
334:
333:
330:
329:
318:
307:
296:
283:
278:
277:
275:
274:Classification
267:
266:External links
264:
263:
262:
257:
250:
247:
236:
235:
210:
209:
207:
204:
201:
200:
181:
179:
168:
165:
162:
161:
142:
140:
129:
126:
101:
98:
66:
63:
38:
37:
33:
32:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
1413:
1402:
1401:Rare diseases
1399:
1397:
1394:
1393:
1391:
1378:
1377:
1370:
1363:
1359:
1358:
1354:
1353:
1351:
1347:
1339:
1336:
1335:
1334:
1333:
1329:
1325:
1322:
1321:
1320:
1319:
1315:
1310:
1307:
1306:
1305:
1304:
1300:
1296:
1293:
1292:
1291:
1290:
1286:
1282:
1279:
1278:
1277:
1276:
1272:
1268:
1265:
1263:
1260:
1258:
1255:
1253:
1250:
1247:
1245:
1242:
1241:
1240:
1239:
1235:
1234:
1232:
1228:
1220:
1217:
1216:
1215:
1214:
1210:
1206:
1205:Salla disease
1203:
1202:
1201:
1200:
1196:
1191:
1188:
1187:
1186:
1185:
1181:
1177:
1174:
1173:
1172:
1171:
1167:
1163:
1160:
1159:
1158:
1157:
1153:
1149:
1146:
1145:
1144:
1143:
1139:
1135:
1132:
1131:
1130:
1129:
1125:
1124:
1122:
1118:
1110:
1107:
1106:
1105:
1104:
1100:
1096:
1093:
1092:
1091:
1090:
1086:
1082:
1079:
1078:
1077:
1076:
1072:
1068:
1065:
1064:
1063:
1062:
1058:
1054:
1051:
1050:
1049:
1048:
1044:
1040:
1037:
1036:
1035:
1034:
1030:
1026:
1023:
1021:
1018:
1017:
1016:
1015:
1011:
1007:
1003:
1000:
999:
998:
997:
993:
989:
986:
985:
984:
983:
979:
975:
972:
971:
970:
969:
965:
961:
958:
957:
956:
955:
951:
947:
944:
943:
942:
941:
937:
933:
930:
929:
928:
927:
923:
919:
916:
915:
914:
913:
909:
905:
902:
901:
900:
899:
895:
894:
892:
888:
883:
879:
872:
867:
865:
860:
858:
853:
852:
849:
833:
830:
826:
823:
822:
821:
818:
816:
813:
812:
810:
806:
800:
797:
795:
792:
791:
789:
787:
783:
777:
774:
772:
769:
767:
764:
760:
757:
756:
755:
752:
751:
749:
747:
744:
740:
734:
731:
727:
724:
723:
722:
719:
718:
716:
714:
711:
707:
697:
694:
690:
687:
686:
685:
682:
681:
679:
676:
672:
666:
663:
662:
660:
657:
653:
650:
648:
644:
636:
633:
631:
628:
627:
626:
625:
621:
620:
618:
616:
612:
608:
600:
597:
596:
595:
594:
590:
589:
587:
585:
581:
578:
575:
570:
565:
561:
549:
546:
545:
544:
541:
539:
536:
532:
529:
528:
527:
526:
522:
521:
519:
515:
509:
508:Osteopetrosis
506:
504:
501:
499:
496:
495:
493:
491:
487:
481:
478:
476:
473:
471:
468:
467:
465:
463:
459:
453:
450:
448:
445:
443:
440:
439:
437:
435:
431:
425:
422:
421:
419:
417:
413:
410:
408:
403:
399:
395:
388:
383:
381:
376:
374:
369:
368:
365:
352:
348:
347:
343:
342:
339:
335:
328:
324:
323:
319:
317:
313:
312:
308:
306:
302:
301:
297:
294:
293:
289:
285:
284:
281:
276:
272:
265:
261:
258:
256:
253:
252:
248:
246:
245:
244:
225:
221:
215:
212:
205:
197:
194:November 2017
188:
184:
180:
177:
173:
172:
166:
158:
155:November 2017
149:
145:
141:
138:
134:
133:
127:
125:
123:
119:
114:
111:
107:
99:
97:
95:
90:
88:
84:
80:
76:
72:
64:
62:
60:
56:
52:
48:
44:
34:
30:
25:
20:
1373:
1355:
1330:
1316:
1301:
1287:
1273:
1261:
1236:
1211:
1197:
1182:
1168:
1154:
1140:
1126:
1101:
1087:
1073:
1059:
1045:
1031:
1012:
994:
980:
966:
952:
938:
924:
910:
896:
880:, membrane:
770:
622:
591:
523:
344:
320:
309:
298:
286:
240:
239:
227:. Retrieved
223:
214:
191:
187:adding to it
182:
152:
148:adding to it
143:
115:
103:
91:
83:cleft palate
68:
42:
41:
615:enchondroma
572:(including
1390:Categories
1109:Cystinuria
988:Cystinuria
434:Metaphysis
322:DiseasesDB
229:2017-07-01
206:References
108:gene. The
1374:see also
884:disorders
611:Chondroma
462:Epiphysis
416:Diaphysis
167:Treatment
128:Diagnosis
55:stillborn
47:cartilage
1311:, GSD-Ib
1192:, GSD-Ic
574:dwarfism
346:Orphanet
224:omim.org
122:autosome
100:Genetics
87:clubfoot
1357:SLC54A1
1332:SLC40A1
1318:SLC39A4
1303:SLC37A4
1295:CDOG 2C
1289:SLC35C1
1275:SLC26A4
1252:type 1B
1238:SLC26A2
1213:SLC17A8
1199:SLC17A5
1184:SLC17A3
1170:SLC16A2
1156:SLC16A1
1142:SLC12A3
1128:SLC11A1
1075:SLC6A19
1014:SLC4A11
968:SLC2A10
918:SPATCCM
759:type 1B
743:SLC26A2
316:C535395
295:: Q77.5
110:protein
106:SLC26A2
79:abdomen
1219:DFNA25
1103:SLC7A9
1089:SLC7A7
1061:SLC5A5
1047:SLC5A2
1033:SLC5A1
996:SLC4A1
982:SLC3A1
954:SLC2A5
940:SLC2A2
926:SLC2A1
912:SLC1A4
898:SLC1A3
726:type 2
710:COL2A1
305:256050
1349:51-60
1230:21-40
1120:11-20
675:FGFR3
656:FGFR2
351:56304
327:33349
59:birth
1162:HHF7
890:1-10
525:FLNB
311:MeSH
300:OMIM
75:legs
73:and
71:arms
51:bone
49:and
288:ICD
189:.
150:.
1392::
349::
325::
314::
303::
292:10
222:.
1364:)
1360:(
1004:/
870:e
863:t
856:v
677::
658::
613:/
576:)
566:/
404:/
386:e
379:t
372:v
290:-
280:D
232:.
196:)
192:(
157:)
153:(
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
