67:
43:
236:(X-rays). The X-rays show whether certain bones are shorter than others or shorter than they are in expected to be. Along with these diagnostic steps the healthcare provider may conduct a genetic test. This could be to see if the disorder runs in the family and has been passed down or to identify the defective gene.
572:
This is the rarest form of brachydactyly. It is most often part of another condition that someone is born with. Type E shortens the bones in the hands and feet along with the bottom bone in the fingers. Instead of making the fingers and toes look shorter, it makes the hands and feet look smaller.
185:
Isolated brachydactyly does not affect the wellbeing nor longevity of one's life, in most cases treatment is not necessary. The trait is primarily a cosmetic one and does not, in most cases, affect function of the hands and feet. Even left untreated and affecting function the general diagnosis of
740:
Jenkins, Dagan; Seelow, Dominik; Jehee, Fernanda S.; Perlyn, Chad A.; Alonso, Luís G.; Bueno, Daniela F.; Donnai, Dian; Josifiova, Dragana; Mathijssen, Irene M. J.; Morton, Jenny E. V.; Helene Ørstavik, Karen; Sweeney, Elizabeth; Wall, Steven A.; Marsh, Jeffrey L.; Nürnberg, Peter (2007-06-01).
231:
methods. It is usually found early during infancy or in childhood years when the size difference becomes noticeable. It normally gets diagnosed as the difference in phalange size becomes more apparent. Healthcare providers complete a medical history, physical exam of symptoms and use
176:
Symptoms of isolated brachydactyly include shorter bones in the hands and feet. This could include, phalanges, metacarpals, metatarsals, carpals, and tarsals. Different types of isolated brachydactyly have different symptoms and they are grouped according to what areas they affect.
151:
ratio of the length of the third (middle) finger to the hand length. Both are expressed in the same units (centimeters, for example) and are measured in an open hand from the fingertip to the principal creases where the finger joins the palm and where the palm joins the wrist.
516:
This rare form of brachydactyly only affects three fingers on each hand. The index, middle, and little finger will have their middle bone shortened. The ring finger will not be affected. As a result, type C brachydactyly will leave the ring finger as the longest on the hand.
1373:
1366:
1169:
1154:
190:
or if brachydactyly is not isolated and is a part of a larger genetic condition. In rare cases of isolated untreated brachydactyly, simple functions like walking or grabbing objects may be difficult, reducing the overall quality of life.
491:
Type B affects the final bones of all eight fingers. It causes the bone to be shortened or missing entirely. The same thing happens to the corresponding toes. The final thumb bones and big toe bones may be split or flatter than average.
682:
Pierpont, Mary Ella; Brueckner, Martina; Chung, Wendy K.; Garg, Vidu; Lacro, Ronald V.; McGuire, Amy L.; Mital, Seema; Priest, James R.; Pu, William T.; Roberts, Amy; Ware, Stephanie M.; Gelb, Bruce D.; Russell, Mark W. (2018-11-20).
1359:
244:
Most isolated forms of brachydactyly are considered rare, that is, diseases affecting less 200,000 people. However, type A3 and type D are relatively common, affecting around 2% of the population. Particularly high prevalence of
187:
652:
211:(which is often confused with reconstructive surgery but differs in that cosmetic surgery may not be seen as medically necessary while reconstructive is) to change the way the affected areas appear.
2055:
1953:
249:
was reported among
Israeli Arabs and in the Japanese population. Type A3 was found at an especially high frequency of 21% among Japanese schoolchildren.
1446:
1351:
647:
860:
1894:
1045:
1113:
743:"RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity"
1848:
1567:
635:
1342:
1329:
1316:
1303:
1290:
1277:
1264:
1251:
1238:
1683:
630:
In the above brachydactyly syndromes, short digits are the most prominent of the anomalies, but in many other syndromes (
1386:
164:
dominant trait (The exact gene may differ see "Types" table for specific genes). However exceptions could exist due to
1853:
1572:
1402:
1390:
889:
548:
Most common form of brachydactyly. It shortens the final bone in the thumbs and does not affect the fingers at all.
95:
1884:
1938:
1858:
1066:
Meiselman SA, Berkenstadt M, Ben-Ami T, Goodman RM (1989). "Brachydactyly type A-7 (Smorgasbord): a new entity".
360:
Type A2 is a very rare form of brachydactyly. The phalanges of the index fingers and second toes are shortened.
1793:
1436:
1188:
638:, etc.), brachydactyly is a minor feature compared to the other anomalies or problems comprising the syndrome.
1830:
1464:
1441:
130:
186:
brachydactyly does not impact life expectancy. Prognosis may differ with different types or syndromes. ie.
204:
143:
for normal values of finger length as a ratio to other body measurements have been published. In clinical
1733:
1398:
86:
1948:
852:
522:
246:
118:
1766:
1382:
1173:
126:
66:
1628:
1091:
310:
134:
207:
is used to improve function and the ability to use one's phalanges. Another treatment includes
1963:
1943:
1199:
1083:
1005:
978:
951:
933:
829:
780:
762:
722:
704:
55:
1229:
2010:
2005:
1926:
1918:
1838:
1802:
1610:
1562:
1519:
1075:
1037:
941:
923:
819:
811:
770:
754:
712:
696:
274:
60:
409:
Characterized by shortened 2nd and 5th fingers and an absence of the 2nd-5th lateral toes.
2026:
1761:
1591:
1557:
1510:
228:
208:
102:
1338:
1325:
1312:
1299:
1286:
1273:
1260:
1247:
1234:
1109:
798:
Wlodarczyk, Bogdan J.; Palacios, Ana M.; George, Timothy M.; Finnell, Richard H. (2012).
1889:
1820:
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1678:
1582:
1456:
1079:
946:
911:
824:
799:
775:
742:
717:
684:
597:
Brachydactyly types B and E combined, Ballard syndrome or Pitt-Williams brachydactyly.
485:
224:
80:
1182:
1178:
168:
medicines taken during pregnancy or low blood flow to the extremities during infancy.
2049:
1899:
1843:
1810:
1514:
657:
631:
542:
314:
295:
220:
165:
148:
17:
1095:
1981:
1874:
1716:
1688:
1474:
1469:
1346:
1333:
1320:
1307:
1294:
1281:
1268:
1255:
1242:
200:
406:
Brachydactyly type A4, brachymesophalangy II and V or brachydactyly temtamy type.
1193:
700:
1904:
1671:
1662:
1547:
1479:
357:
Brachydactyly type A2, Brachymesophalangy II or
Brachydactyly Mohr-Wriedt type.
318:
233:
1204:
1879:
1815:
1728:
1722:
1698:
1666:
1633:
1602:
1552:
1524:
1163:
662:
330:
322:
1009:
937:
766:
708:
1986:
1931:
1738:
1623:
1616:
1597:
1529:
1493:
1210:
114:
101: 'finger') is a medical term denoting the presence of abnormally short
996:
Idengaku Zasshi, Jinrui (1962) . "The
Japanese journal of human genetics".
955:
928:
881:
833:
784:
726:
380:
Brachydactyly type A3, brachymesophalangy V or brachydactyly-clinodactyly.
42:
1087:
1428:
1424:
1406:
982:
815:
161:
144:
140:
122:
1996:
1654:
1146:
199:
Treatment is only needed if brachydactyly affects the function of the
188:
brachydactyly-mesomelia-intellectual disability-heart defects syndrome
1158:
589:
561:
533:
397:
373:
346:
106:
758:
1110:"Clubbing of the Nails: Background, Pathophysiology, Epidemiology"
298:
1215:
1539:
969:
Temtamy, Samia (1978). ""The genetics of hand malformations."".
607:
586:
581:
556:
541:
Brachydactyly type D. "Stub Thumb" Referred to inaccurately as "
528:
505:
500:
476:
471:
436:
417:
391:
368:
349:
341:
326:
290:
266:
1355:
1972:
1502:
1415:
653:
Thumb stiffness-brachydactyly-intellectual disability syndrome
110:
129:. Brachydactyly may also be a signal that one is at risk for
113:) at birth. The shortness is relative to the length of other
383:
Type A3 only shortens the middle bone of the little finger.
133:
due to the association between congenital heart disease and
117:
and other parts of the body. Brachydactyly is an inherited,
137:
and the link between
Carpenter syndrome and brachydactyly.
125:, but can also occur with other anomalies as part of many
461:
Brachydactyly type A7 or brachydactyly smorgasbord type.
685:"Genetic Basis for Congenital Heart Disease: Revisited"
147:, the most commonly used index of digit length is the
445:
Brachydactyly type A6 or
Osebold-Remondini syndrome.
313:
inherited disease. Features include: short or absent
306:
Brachydactyly type A1 or
Farabee-type brachydactyly.
1136:
2019:
1995:
1971:
1962:
1917:
1867:
1829:
1801:
1792:
1783:
1749:
1709:
1653:
1646:
1581:
1538:
1501:
1492:
1455:
1423:
1414:
1397:
1140:
54:
35:
513:Brachydactyly type C or Brachydactyly Haws type.
160:Generally, brachydactyly is inherited through an
910:Temtamy, Samia A.; Aglan, Mona S. (2008-06-13).
2056:Congenital disorders of musculoskeletal system
1367:
8:
853:"Brachydactyly Types - Causes & Outlook"
800:"Antiepileptic drugs and pregnancy outcomes"
203:. In rare cases where function is affected,
804:American Journal of Medical Genetics Part A
219:Brachydactyly is usually diagnosed through
121:trait. It most often occurs as an isolated
1968:
1798:
1789:
1650:
1498:
1420:
1411:
1374:
1360:
1352:
1137:
257:There are several types of brachydactyly:
65:
41:
32:
945:
927:
823:
774:
716:
259:
674:
648:Hypertension and brachydactyly syndrome
998:The Japanese Journal of Human Genetics
747:The American Journal of Human Genetics
426:Brachydactyly type A5 nail dysplasia.
1116:from the original on 20 November 2021
971:Birth Defects Original Article Series
7:
1895:Greig cephalopolysyndactyly syndrome
1339:Brachydactyly types B and E combined
1031:
1029:
1027:
1025:
1023:
1021:
1019:
847:
845:
843:
1385:malformations and deformations of
1080:10.1111/j.1399-0004.1989.tb02940.x
25:
916:Orphanet Journal of Rare Diseases
50:Different forms of brachydactyly
27:Abnormally short fingers or toes
1568:Congenital patellar dislocation
1447:Wallis–Zieff–Goldblatt syndrome
1048:from the original on 2022-10-13
892:from the original on 2022-10-13
863:from the original on 2022-10-13
1:
701:10.1161/CIR.0000000000000606
1854:Oto-palato-digital syndrome
1849:Hallermann–Streiff syndrome
1573:Congenital knee dislocation
1391:musculoskeletal abnormality
2072:
1885:Craniodiaphyseal dysplasia
617:Brachydactyly type A1, B.
92: 'short' and
1859:Treacher Collins syndrome
1710:reduction deficits / limb
636:Rubinstein–Taybi syndrome
49:
40:
1684:Cenani–Lenz syndactylism
1437:Cleidocranial dysostosis
1038:"What Is Brachydactyly?"
484:Brachydactyly type B or
131:congenital heart disease
1831:Craniofacial dysostosis
1387:musculoskeletal system
929:10.1186/1750-1172-3-15
569:Brachydactyly type E.
303:5p13.3-p13.2, 2q33-q35
205:reconstructive surgery
1939:Klippel–Feil syndrome
1287:Brachydactyly type A7
1274:Brachydactyly type A6
1261:Brachydactyly type A3
1248:Brachydactyly type A2
1235:Brachydactyly type A1
977:(3): i–xviii, 1–619.
468:Type B, BDB (or BDB1)
18:Brachydactyly type A3
1949:Spina bifida occulta
1465:Madelung's deformity
1442:Sprengel's deformity
1326:Brachydactyly type E
1313:Brachydactyly type C
1300:Brachydactyly type B
816:10.1002/ajmg.a.35438
247:brachydactyly type D
127:congenital syndromes
1767:RAPADILINO syndrome
882:"Rare Diseases FAQ"
1629:Rocker bottom foot
311:autosomal dominant
135:Carpenter syndrome
2043:
2042:
2039:
2038:
2035:
2034:
1964:Thoracic skeleton
1944:Spondylolisthesis
1913:
1912:
1779:
1778:
1775:
1774:
1642:
1641:
1488:
1487:
1225:
1224:
695:(21): e653–e711.
623:
622:
354:20q11.2, 4q23-q24
74:
73:
30:Medical condition
16:(Redirected from
2063:
2011:Pectus carinatum
2006:Pectus excavatum
1969:
1927:Spinal curvature
1919:Vertebral column
1839:Crouzon syndrome
1803:Craniosynostosis
1799:
1790:
1655:fingers and toes
1651:
1563:Discoid meniscus
1520:Upington disease
1499:
1421:
1412:
1376:
1369:
1362:
1353:
1138:
1126:
1125:
1123:
1121:
1112:. 15 July 2021.
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1053:
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993:
987:
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959:
949:
931:
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901:
900:
898:
897:
878:
872:
871:
869:
868:
857:Cleveland Clinic
849:
838:
837:
827:
810:(8): 2071–2090.
795:
789:
788:
778:
753:(6): 1162–1170.
737:
731:
730:
720:
679:
260:
209:cosmetic surgery
70:
69:
61:Medical genetics
45:
33:
21:
2071:
2070:
2066:
2065:
2064:
2062:
2061:
2060:
2046:
2045:
2044:
2031:
2027:Poland syndrome
2015:
1991:
1958:
1909:
1863:
1825:
1771:
1762:Larsen syndrome
1750:multiple joints
1745:
1705:
1638:
1577:
1558:Genu recurvatum
1534:
1511:Hip dislocation
1484:
1451:
1401:
1393:
1380:
1226:
1221:
1220:
1149:
1135:
1130:
1129:
1119:
1117:
1108:
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1103:
1065:
1064:
1060:
1051:
1049:
1035:
1034:
1017:
995:
994:
990:
968:
967:
963:
912:"Brachydactyly"
909:
908:
904:
895:
893:
880:
879:
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866:
864:
851:
850:
841:
797:
796:
792:
739:
738:
734:
681:
680:
676:
671:
644:
628:
626:Other syndromes
604:Type A1B, BDA1B
255:
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217:
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183:
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158:
64:
31:
28:
23:
22:
15:
12:
11:
5:
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1923:
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1908:
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1902:
1897:
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1890:Dolichocephaly
1887:
1882:
1877:
1871:
1869:
1865:
1864:
1862:
1861:
1856:
1851:
1846:
1841:
1835:
1833:
1827:
1826:
1824:
1823:
1821:Trigonocephaly
1818:
1813:
1807:
1805:
1796:
1794:Skull and face
1787:
1781:
1780:
1777:
1776:
1773:
1772:
1770:
1769:
1764:
1759:
1757:Arthrogryposis
1753:
1751:
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1741:
1736:
1731:
1719:
1713:
1711:
1707:
1706:
1704:
1703:
1702:
1701:
1691:
1686:
1681:
1679:Arachnodactyly
1676:
1675:
1674:
1659:
1657:
1648:
1644:
1643:
1640:
1639:
1637:
1636:
1631:
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1607:
1606:
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1600:
1587:
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1583:foot deformity
1579:
1578:
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1565:
1560:
1555:
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1544:
1542:
1536:
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1517:
1507:
1505:
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1490:
1489:
1486:
1485:
1483:
1482:
1477:
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1467:
1461:
1459:
1457:hand deformity
1453:
1452:
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1418:
1409:
1395:
1394:
1381:
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1323:
1310:
1297:
1284:
1271:
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1232:
1223:
1222:
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1207:
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1185:
1166:
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1144:
1142:
1141:Classification
1134:
1133:External links
1131:
1128:
1127:
1101:
1058:
1036:Brennan, Dan.
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988:
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759:10.1086/518047
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594:9q22, 2q31-q32
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1900:Plagiocephaly
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1844:Hypertelorism
1842:
1840:
1837:
1836:
1834:
1832:
1828:
1822:
1819:
1817:
1814:
1812:
1811:Scaphocephaly
1809:
1808:
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1797:
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1768:
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1700:
1697:
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1694:Brachydactyly
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1677:
1673:
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1669:
1668:
1664:
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1649:
1647:Either / both
1645:
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1515:Hip dysplasia
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1347:Rare Diseases
1345:'s Office of
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1334:Rare Diseases
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1321:Rare Diseases
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664:
661:
659:
658:Clubbed thumb
656:
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645:
641:
639:
637:
633:
632:Down syndrome
625:
619:
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452:Type A7, BDA7
451:
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433:Type A6, BDA6
432:
431:
428:
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414:Type A5, BDA5
413:
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395:
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388:Type A4, BDA4
387:
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367:
365:Type A3, BDA3
364:
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359:
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348:
345:
343:
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338:Type A2, BDA2
337:
336:
332:
328:
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294:
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287:Type A1, BDA1
286:
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166:antiepileptic
163:
155:
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149:dimensionless
146:
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124:
120:
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108:
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78:
77:Brachydactyly
68:
62:
59:
57:
53:
48:
44:
39:
36:Brachydactyly
34:
19:
1875:Macrocephaly
1721:
1717:Acheiropodia
1693:
1689:Ectrodactyly
1609:
1590:
1475:Oligodactyly
1470:Clinodactyly
1399:Appendicular
1209:
1198:
1187:
1168:
1153:
1120:18 September
1118:. Retrieved
1104:
1074:(4): 261–7.
1071:
1067:
1061:
1050:. Retrieved
1041:
1001:
997:
991:
974:
970:
964:
919:
915:
905:
894:. Retrieved
885:
876:
865:. Retrieved
856:
807:
803:
793:
750:
746:
735:
692:
688:
677:
629:
614:5p13.3-p13.2
578:Type B and E
396:
319:carpal bones
282:Description
256:
243:
240:Epidemiology
229:radiological
218:
198:
184:
175:
159:
139:
98:
93:
89:
84:
76:
75:
1905:Saddle nose
1672:Webbed toes
1663:Polydactyly
1548:Genu valgum
1480:Polydactyly
1068:Clin. Genet
689:Circulation
553:Type E, BDE
497:Type C, BDC
323:hypoplastic
309:BDA1 is an
234:radiographs
1880:Platybasia
1816:Oxycephaly
1729:Phocomelia
1723:Ectromelia
1699:Stub thumb
1667:Syndactyly
1634:Hammer toe
1603:Pigeon toe
1553:Genu varum
1525:Coxa valga
1383:Congenital
1200:DiseasesDB
1052:2022-10-13
896:2022-10-13
886:Genome.gov
867:2022-10-13
669:References
663:Syndactyly
331:metacarpal
329:and short
325:or absent
115:long bones
99:(daktulos)
79:(from
1932:Scoliosis
1739:Hemimelia
1624:Pes cavus
1617:Flat feet
1598:Club foot
1530:Coxa vara
1211:SNOMED CT
1010:0021-5074
938:1750-1172
922:(1): 15.
767:0002-9297
709:0009-7322
545:thumbs".
315:phalanges
215:Diagnosis
201:phalanges
195:Treatment
181:Prognosis
162:autosomal
141:Nomograms
90:(brachus)
56:Specialty
2050:Category
1982:Cervical
1429:shoulder
1425:clavicle
1407:dysmelia
1216:43476002
1114:Archived
1096:30099363
1046:Archived
1004:: 10–9.
956:18554391
890:Archived
861:Archived
834:22711424
785:17503333
727:30571578
642:See also
566:2q31-q32
538:2q31-q32
403:2q31-q32
317:, extra
225:clinical
172:Symptoms
145:genetics
123:dysmelia
119:dominant
96:δάκτυλος
1997:sternum
1230:Type A2
1194:D059327
1088:2714013
947:2441618
825:3402584
776:1867103
718:6555769
543:clubbed
510:20q11.2
333:bones.
107:fingers
2020:other:
1734:Amelia
1611:valgus
1094:
1086:
1008:
983:215242
981:
954:
944:
936:
832:
822:
783:
773:
765:
725:
715:
707:
608:607004
590:HOXD13
582:112440
562:HOXD13
557:113300
534:HOXD13
529:113200
523:Type D
501:113100
472:113000
437:112910
418:112900
398:HOXD13
392:112800
374:HOXD13
369:112700
347:BMPR1B
342:112600
291:112500
156:Causes
103:digits
87:βραχύς
63:
1987:Bifid
1868:other
1785:Axial
1592:varus
1205:29782
1183:755.4
1179:755.2
1164:Q68.1
1092:S2CID
1042:WebMD
525:, BDD
299:BDA1B
275:Locus
253:Types
227:, or
83:
81:Greek
1973:ribs
1540:knee
1416:Arms
1403:limb
1189:MeSH
1174:9-CM
1122:2015
1084:PMID
1006:ISSN
979:PMID
952:PMID
934:ISSN
830:PMID
808:158A
781:PMID
763:ISSN
723:PMID
705:ISSN
587:ROR2
506:GDF5
481:9q22
477:ROR2
350:GDF5
327:ulna
271:Gene
267:OMIM
263:Type
111:toes
1503:hip
1494:Leg
1343:NIH
1341:at
1330:NIH
1328:at
1317:NIH
1315:at
1304:NIH
1302:at
1291:NIH
1289:at
1278:NIH
1276:at
1265:NIH
1263:at
1252:NIH
1250:at
1239:NIH
1237:at
1170:ICD
1155:ICD
1076:doi
942:PMC
924:doi
820:PMC
812:doi
771:PMC
755:doi
713:PMC
697:doi
693:138
296:IHH
109:or
2052::
1665:/
1513:/
1427:/
1405:/
1389:/
1214::
1203::
1192::
1177::
1162::
1159:10
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1082:.
1072:35
1070:.
1044:.
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1018:^
1000:.
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950:.
940:.
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842:^
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751:80
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634:,
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1999::
1975::
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105:(
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