68:
44:
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453:
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364:
349:
439:
1140:
431:
1150:
316:
115:
111:
1033:
526:
224:
1145:
130:, and one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
974:
379:
208:
461:
225:"Upington disease | Disease | Living With | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
1155:
928:
647:
126:
Upington disease is inherited in an autosomal dominant manner. This means the defective gene is located on an
251:
763:
466:
933:
652:
482:
470:
419:
298:
964:
153:
1018:
938:
67:
873:
516:
390:
107:
90:. It has only one published source claiming its existence in three generations of one family from
910:
544:
521:
1135:
182:
813:
478:
103:
1028:
84:
247:
8:
846:
462:
368:
87:
270:
Schweitzer G, Jones B, Timme A (1971). "Upington disease: a familial dyschondroplasia".
708:
1043:
1023:
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56:
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998:
918:
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690:
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703:
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677:
609:
573:
508:
504:
486:
414:
178:
127:
81:
51:
Upington disease has an autosomal dominant pattern of inheritance.
1076:
734:
384:
212:
106:(premature closure of the capital femoral epiphyses and widened
353:
619:
1052:
582:
495:
31:
Perthes-like hip disease, Enchondromata, Ecchondromata
331:
269:
1127:
1141:Congenital disorders of musculoskeletal system
447:
315:: CS1 maint: numeric names: authors list (
454:
440:
66:
42:
1151:Genetic disorders with OMIM but no gene
1128:
204:
202:
435:
265:
263:
975:Greig cephalopolysyndactyly syndrome
297:RESERVED, INSERM US14-- ALL RIGHTS.
296:
189:, from where the family originates.
137:
209:Online Mendelian Inheritance in Man
199:
13:
465:malformations and deformations of
260:
14:
1167:
327:
141:
102:The disease is characterized by
648:Congenital patellar dislocation
527:Wallis–Zieff–Goldblatt syndrome
110:with flattened femoral heads),
97:
290:
241:
217:
1:
192:
133:
104:Perthes-like pelvic anomalies
1146:Autosomal dominant disorders
299:"Orphanet: Upington disease"
7:
934:Oto-palato-digital syndrome
929:Hallermann–Streiff syndrome
653:Congenital knee dislocation
471:musculoskeletal abnormality
121:
10:
1172:
965:Craniodiaphyseal dysplasia
181:refers to the city in the
1099:
1075:
1051:
1042:
997:
947:
939:Treacher Collins syndrome
909:
881:
872:
863:
829:
790:reduction deficits / limb
789:
733:
726:
661:
618:
581:
572:
535:
503:
494:
477:
405:
335:
229:rarediseases.info.nih.gov
172:
55:
50:
41:
35:Familial dyschondroplasia
26:
21:
764:Cenani–Lenz syndactylism
517:Cleidocranial dysostosis
911:Craniofacial dysostosis
1156:Health in South Africa
467:musculoskeletal system
183:Northern Cape Province
150:This section is empty.
1019:Klippel–Feil syndrome
88:malformation disorder
80:is an extremely rare
1029:Spina bifida occulta
545:Madelung's deformity
522:Sprengel's deformity
847:RAPADILINO syndrome
709:Rocker bottom foot
406:External resources
1123:
1122:
1119:
1118:
1115:
1114:
1044:Thoracic skeleton
1024:Spondylolisthesis
993:
992:
859:
858:
855:
854:
722:
721:
568:
567:
429:
428:
170:
169:
75:
74:
16:Medical condition
1163:
1091:Pectus carinatum
1086:Pectus excavatum
1049:
1048:
1007:Spinal curvature
999:Vertebral column
919:Crouzon syndrome
883:Craniosynostosis
879:
878:
870:
869:
735:fingers and toes
731:
730:
643:Discoid meniscus
600:Upington disease
579:
578:
501:
500:
492:
491:
456:
449:
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432:
333:
332:
321:
320:
314:
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278:(36): 994–1000.
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152:You can help by
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138:
78:Upington disease
71:
70:
46:
22:Upington disease
19:
18:
1171:
1170:
1166:
1165:
1164:
1162:
1161:
1160:
1126:
1125:
1124:
1111:
1107:Poland syndrome
1095:
1071:
1038:
989:
943:
905:
851:
842:Larsen syndrome
830:multiple joints
825:
785:
718:
657:
638:Genu recurvatum
614:
591:Hip dislocation
564:
531:
481:
473:
460:
430:
425:
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344:
330:
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248:Disease ID 5421
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1120:
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1101:
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1080:
1073:
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1056:
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1026:
1021:
1016:
1015:
1014:
1003:
1001:
995:
994:
991:
990:
988:
987:
982:
977:
972:
970:Dolichocephaly
967:
962:
957:
951:
949:
945:
944:
942:
941:
936:
931:
926:
921:
915:
913:
907:
906:
904:
903:
901:Trigonocephaly
898:
893:
887:
885:
876:
874:Skull and face
867:
861:
860:
857:
856:
853:
852:
850:
849:
844:
839:
837:Arthrogryposis
833:
831:
827:
826:
824:
823:
822:
821:
816:
811:
799:
793:
791:
787:
786:
784:
783:
782:
781:
771:
766:
761:
759:Arachnodactyly
756:
755:
754:
739:
737:
728:
724:
723:
720:
719:
717:
716:
711:
706:
701:
700:
699:
687:
686:
685:
680:
667:
665:
663:foot deformity
659:
658:
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645:
640:
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616:
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612:
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597:
587:
585:
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563:
562:
557:
552:
547:
541:
539:
537:hand deformity
533:
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529:
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459:
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339:
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336:Classification
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328:External links
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289:
272:S. Afr. Med. J
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28:
24:
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15:
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4:
3:
2:
1168:
1157:
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1147:
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1139:
1137:
1136:Rare diseases
1134:
1133:
1131:
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1105:
1104:
1102:
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1083:
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1065:
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1059:
1057:
1054:
1050:
1047:
1045:
1041:
1035:
1034:Sacralization
1032:
1030:
1027:
1025:
1022:
1020:
1017:
1013:
1010:
1009:
1008:
1005:
1004:
1002:
1000:
996:
986:
983:
981:
980:Plagiocephaly
978:
976:
973:
971:
968:
966:
963:
961:
958:
956:
953:
952:
950:
946:
940:
937:
935:
932:
930:
927:
925:
924:Hypertelorism
922:
920:
917:
916:
914:
912:
908:
902:
899:
897:
894:
892:
891:Scaphocephaly
889:
888:
886:
884:
880:
877:
875:
871:
868:
866:
862:
848:
845:
843:
840:
838:
835:
834:
832:
828:
820:
817:
815:
812:
810:
807:
806:
805:
804:
800:
798:
795:
794:
792:
788:
780:
777:
776:
775:
774:Brachydactyly
772:
770:
767:
765:
762:
760:
757:
753:
750:
749:
748:
744:
741:
740:
738:
736:
732:
729:
727:Either / both
725:
715:
712:
710:
707:
705:
702:
698:
695:
694:
693:
692:
688:
684:
681:
679:
676:
675:
674:
673:
669:
668:
666:
664:
660:
654:
651:
649:
646:
644:
641:
639:
636:
634:
631:
629:
626:
625:
623:
621:
617:
611:
608:
606:
603:
601:
598:
596:
595:Hip dysplasia
592:
589:
588:
586:
584:
580:
577:
575:
571:
561:
558:
556:
553:
551:
548:
546:
543:
542:
540:
538:
534:
528:
525:
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520:
518:
515:
514:
512:
510:
506:
502:
499:
497:
493:
490:
488:
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480:
476:
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468:
464:
457:
452:
450:
445:
443:
438:
437:
434:
421:
417:
416:
412:
411:
408:
404:
397:
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388:
386:
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381:
377:
375:
371:
370:
366:
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355:
351:
347:
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318:
312:
304:
303:www.orpha.net
300:
293:
285:
281:
277:
273:
266:
264:
257:
256:Rare Diseases
254:'s Office of
253:
249:
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230:
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190:
188:
184:
180:
164:
155:
151:
147:
144:
140:
139:
131:
129:
119:
117:
116:ecchondromata
113:
112:enchondromata
109:
108:femoral necks
105:
95:
93:
89:
86:
83:
79:
69:
63:
60:
58:
54:
49:
45:
40:
36:
32:
29:
25:
20:
955:Macrocephaly
801:
797:Acheiropodia
769:Ectrodactyly
689:
670:
599:
555:Oligodactyly
550:Clinodactyly
479:Appendicular
413:
389:
378:
363:
348:
302:
292:
275:
271:
243:
232:. Retrieved
228:
219:
187:South Africa
176:
158:
154:adding to it
149:
125:
101:
98:Presentation
92:South Africa
77:
76:
62:Rheumatology
34:
30:
985:Saddle nose
752:Webbed toes
743:Polydactyly
628:Genu valgum
560:Polydactyly
161:August 2017
27:Other names
1130:Categories
960:Platybasia
896:Oxycephaly
809:Phocomelia
803:Ectromelia
779:Stub thumb
747:Syndactyly
714:Hammer toe
683:Pigeon toe
633:Genu varum
605:Coxa valga
463:Congenital
234:2016-03-01
193:References
134:Management
1012:Scoliosis
819:Hemimelia
704:Pes cavus
697:Flat feet
678:Club foot
610:Coxa vara
177:The name
82:autosomal
57:Specialty
1062:Cervical
509:shoulder
505:clavicle
487:dysmelia
415:Orphanet
311:cite web
211:(OMIM):
179:Upington
128:autosome
122:Genetics
85:dominant
1077:sternum
396:C536472
284:5316541
1100:other:
814:Amelia
691:valgus
385:191520
282:
213:191520
173:Eponym
64:
33:, and
1067:Bifid
948:other
865:Axial
672:varus
359:M91.8
1053:ribs
620:knee
496:Arms
483:limb
420:3408
391:MeSH
380:OMIM
369:9-CM
317:link
280:PMID
114:and
583:hip
574:Leg
374:xxx
365:ICD
350:ICD
252:NIH
250:at
156:.
1132::
745:/
593:/
507:/
485:/
469:/
418::
394::
383::
372::
357::
354:10
313:}}
309:{{
301:.
276:45
274:.
262:^
227:.
201:^
185:,
118:.
94:.
1079::
1055::
455:e
448:t
441:v
367:-
352:-
342:D
319:)
305:.
286:.
237:.
163:)
159:(
37:,
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