639:
608:
663:
274:
40:
344:. Unless these supernumeraries are removed they will crowd the adult teeth in what already may be an underdeveloped jaw. If so, the supernumeraries will probably need to be removed to make space for the adult teeth. Up to 13 supernumerary teeth have been observed. Teeth may also be displaced. Cementum formation may be deficient.
681:
Around 5 years of age, surgical correction may be necessary to prevent any worsening of the deformity. If the mother has dysplasia, caesarian delivery may be necessary. Craniofacial surgery may be necessary to correct skull defects. Coxa vara is treated by corrective femoral osteotomies. If there is
710:
fell down a narrow well pipe in her family's Texas property. Ron Short, a roofing contractor who was born without collarbones because of cleidocranial dysostosis and thus could collapse his shoulders to work in cramped corners, arrived at the site and offered to go down the shaft. The rescuers did
638:
199:
often does not close until later, and those affected are often shorter than average. Other symptoms may include a prominent forehead, wide set eyes, abnormal teeth, and a flat nose. Symptoms vary among people; however, intelligence is typically unaffected.
1826:
311:
of the shoulders including ability to touch the shoulders together in front of the chest. The defect is bilateral 80% of the time. Partial collarbones may cause nerve damage symptoms and therefore have to be removed by
1819:
1715:
1700:
607:
1812:
2520:
598:
Diagnosis of CCD spectrum disorder is established in an individual with typical clinical and radiographic findings and/or by the identification of a heterozygous pathogenic variant in RUNX2 (CBFA1).
591:
Different features of the dysostosis are significant. Radiological imaging helps confirm the diagnosis. During gestation (pregnancy), clavicular size can be calculated using available nomograms.
1469:
Nebgen, Denise; Wood, Robert S.; Shapiro, Robert D. (1991). "Management of a mandibular fracture in a patient with cleidocranial dysplasia: Report of a case and review of the literature".
1455:
1668:
2513:
1362:
2506:
253:
It affects about one per million people. Males and females are equally commonly affected. Modern descriptions of the condition date to at least 1896. The term is from
3433:
1577:
463:
3525:
1360:
Saraswathivilasam S. Suresh, A Family With
Cleidocranial Dysplasia And Crossed Ectopic Kidney In One Child, Acta Orthop. Belg. 2009, N° 4 (Vol. 75/4) p.521-527.
662:
250:
such as a device to protect the skull and dental care. Surgery may be performed to fix certain bone abnormalities. Life expectancy is generally normal.
992:
892:
557:
1804:
1513:
1593:"It was such an honor to attend the CCD Smiles event this past weekend. It was really powerful to be in a room full of other people with CCD..."
300:
3325:
1439:
931:
292:
People with the condition usually present with a painless swelling in the area of the clavicles at 2 to 3 years of age. Common features are:
970:
3530:
2406:
1673:
865:
827:
789:
333:
Bones and joints are underdeveloped. People are shorter and their frames are smaller than their siblings who do not have the condition.
1289:
2498:
2929:
2759:
2688:
2630:
1592:
1366:
3120:
2620:
1899:
303:
part of the bone. In 10% of cases, they are completely missing. If the collarbones are completely missing or reduced to small
2652:
3411:
3092:
3001:
2723:
2704:
2625:
2347:
682:
brachial plexus irritation with pain and numbness, excision of the clavicular fragments can be performed to decompress it.
195:
are typically either poorly developed or absent, which allows the shoulders to be brought close together. The front of the
3078:
1730:
1256:
1569:
2637:
719:
1834:
1399:
1240:
1215:
1187:
1163:
1138:
1110:
1077:
964:
859:
821:
2728:
2647:
2615:
2301:
2020:
3237:
2662:
1626:
3499:
3475:
3106:
984:
3206:
3148:
3134:
2887:
2560:
2136:
1839:
884:
2787:
2708:
2306:
2025:
1855:
1843:
724:
1505:
3263:
2733:
2610:
2337:
2528:
3453:
3437:
3425:
3397:
3306:
3162:
3034:
2948:
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2718:
2391:
2311:
3258:
2713:
2246:
1741:
561:
228:
120:
923:
3020:
2868:
2642:
2283:
1917:
1894:
482:
393:
236:
128:
572:. This results in delayed ossification of midline structures of the body and ensuing defects in
3535:
3429:
3295:
3253:
3201:
2606:
735:
and Abby
Shapiro were born with cleidocranial dysplasia, a trait they share with their mother.
308:
115:
1781:
954:
3301:
2973:
2915:
2901:
2738:
2667:
2186:
1851:
1415:
Machol, Keren; et al. (November 16, 2017). "Cleidocranial
Dysplasia Spectrum Disorder".
849:
811:
690:
Several studies have reported that life expectancy appears to be normal for people with CCD.
240:
132:
781:
3469:
3441:
3320:
3279:
2987:
2873:
2533:
2401:
1281:
459:
1312:"Cleidocranial dysplasia: importance of radiographic images in diagnosis of the condition"
8:
2934:
2219:
1835:
1719:
573:
247:
180:
956:
Inborn Errors of
Development: The Molecular Basis of Clinical Disorders of Morphogenesis
3015:
2812:
2743:
2081:
1724:
1042:
1015:
541:
537:
397:
277:
Female child patient described by Marie and
Sainton, 1898, showing absence of clavicles
219:
gene which is involved in bone formation. Diagnosis is suspected based on symptoms and
212:
64:
540:, but in some cases its cause is not known. The main mechanism is thought to involve
3073:
2793:
2555:
2416:
2396:
1752:
1550:
1486:
1482:
1447:
1440:"Cleidocranial Dysostosis and Syringomyelia Review of the Literature and Case Report"
1420:
1395:
1343:
1236:
1211:
1183:
1159:
1134:
1106:
1073:
1047:
960:
855:
851:
Genetics for
Orthopedic Surgeons: The Molecular Genetic Basis of Orthopedic Disorders
817:
653:
629:
613:
98:
52:
644:
Panoramic view of the jaws showing multiple unerupted supernumerary teeth mimicking
2683:
2529:
2463:
2458:
2379:
2371:
2291:
2255:
2063:
2015:
1972:
1540:
1478:
1333:
1323:
1037:
1027:
57:
3370:
3156:
3067:
2479:
2214:
2044:
2010:
1963:
1746:
1663:
1602:
715:
707:
668:
Poor development of the clavicles and a bell-shaped rib cage in a person with CCD
414:
379:
348:
337:
232:
224:
142:
124:
108:
1570:"Stranger Things' Gaten Matarazzo Discusses Living with Cleidocranial Dysplasia"
1545:
1528:
1310:
Tanaka JL, Ono E, Filho EM, Castilho JC, Moraes LC, Moraes ME (September 2006).
953:
Epstein, Charles J.; Erickson, Robert P.; Wynshaw-Boris, Anthony Joseph (2004).
718:
was born with cleidocranial dysplasia, which is incorporated into his character
2826:
2576:
2342:
2273:
2237:
2209:
2131:
2035:
1909:
1757:
1363:"A family with cleidocranial dysplasia and crossed ectopic kidney in one child"
711:
not end up using him, though McClure was successfully recovered from the well.
580:
467:
1792:
1709:
3519:
3176:
2798:
2352:
2296:
2263:
2146:
1967:
1658:
1631:
732:
517:
489:
455:
428:
368:
320:
286:
1032:
2434:
2327:
2169:
2141:
1927:
1922:
1554:
1424:
1347:
1328:
1311:
1051:
649:
625:
617:
592:
577:
553:
505:
478:
424:
375:
281:
Cleidocranial dysostosis is a general skeletal condition so named from the
1490:
1451:
2357:
2124:
2115:
2000:
1932:
1787:
1776:
521:
493:
341:
316:
3048:
2332:
2268:
2181:
2175:
2151:
2119:
2086:
2055:
2005:
1977:
1338:
621:
569:
565:
509:
501:
362:
327:
282:
192:
70:
1692:
33:
Cleidocranial dysplasia, Marie-Sainton syndrome, mutational dysostosis
3494:
2439:
2384:
2191:
2076:
2069:
2050:
1982:
1946:
1596:
525:
441:
420:
404:
389:
383:
273:
149:
39:
1881:
1877:
1859:
645:
497:
471:
355:
296:
208:
204:
2449:
2107:
326:
A soft spot or larger soft area in the top of the head where the
304:
1735:
1182:. Elsevier Science Health Science Division. 2003. p. 1539.
450:
Decreased bone density, resulting in increased risk of fractures
3289:
3284:
2909:
2895:
2840:
2820:
2657:
1704:
1677:
698:
Cleidocranial dysostosis affects about one per million people.
513:
220:
104:
3405:
3314:
3170:
3142:
3128:
3114:
3100:
3086:
2881:
2848:
1105:. Lippincott Williams & Wilkins. 2005. pp. 251â252.
1016:"Clinical spectrum of cleidocranial dysplasia: a case report"
545:
227:. Other conditions that can produce similar symptoms include
216:
196:
188:
90:
952:
3419:
3391:
3195:
3042:
3028:
3009:
2995:
2981:
2967:
2942:
2923:
2862:
2834:
2806:
1992:
549:
485:
184:
2425:
1955:
1868:
560:), which encodes a transcription factor required for the
474:
1208:
Elsevier's medical terminology for the practicing nurse
930:. National Organization for Rare Disorders, Inc. 2004.
47:
Adult male patient described by Marie and
Sainton, 1898
1309:
1103:
891:. Genetic and Rare Diseases Information Center. 2016.
1529:"Cleidocranial Dysplasia - An Enigma Among Anomalies"
299:(collarbones) can be partly missing leaving only the
1682:
1533:
3434:Ectrodactylyâectodermal dysplasiaâcleft syndrome 3
1601:
1394:. Lippincott Williams & Wilkins. p. 240.
1235:. Lippincott Williams & Wilkins. p. 307.
1468:
16:Birth defect of the collarbones, skull, and teeth
3517:
1627:"Meet new 'Doom Patrol' co-star Abigail Shapiro"
1392:Lovell & Winter's Pediatric Orthopaedics, 6e
1131:Paul and Juhl's essentials of radiologic imaging
1506:"Jessica Makes It to SafetyâAfter 58 1/2 Hours"
1180:Textbook of Radiology and Imaging: Volume 2, 7e
813:Rare Genetic Disorders That Affect the Skeleton
330:failed to close, or the fontanelle closes late.
3526:Congenital disorders of musculoskeletal system
447:High risk of hearing loss caused by infections
3326:Yemenite deaf-blind hypopigmentation syndrome
2514:
1820:
289:deformities which people with it often have.
1444:Clinical Orthopaedics & Related Research
1303:
1013:
1007:
407:, sometimes causing short and wide fingers.
2521:
2507:
1827:
1813:
1205:
918:
916:
914:
912:
910:
879:
877:
875:
776:
774:
772:
770:
768:
38:
1584:
1544:
1471:Journal of Oral and Maxillofacial Surgery
1337:
1327:
1041:
1031:
766:
764:
762:
760:
758:
756:
754:
752:
750:
748:
2930:Posterior polymorphous corneal dystrophy
2760:Autoimmune polyendocrine syndrome type 1
1667:) is being considered for deletion. See
1097:
1095:
1093:
1091:
1089:
959:. Oxford University Press. p. 333.
843:
841:
839:
837:
595:can sometimes be observed in the skull.
272:
73:, prominent forehead, flat nose, shorter
3121:Anterior segment mesenchymal dysgenesis
1618:
1590:
1503:
907:
872:
3518:
1414:
1389:
1230:
1153:
745:
2653:X-linked adrenal hypoplasia congenita
2502:
1808:
1624:
1526:
1385:
1383:
1201:
1199:
1124:
1122:
1086:
1067:
1063:
1061:
847:
834:
268:
215:manner. It is due to a defect in the
2705:Greig cephalopolysyndactyly syndrome
2348:Greig cephalopolysyndactyly syndrome
1567:
1437:
1128:
995:from the original on 29 October 2016
895:from the original on 28 January 2017
3079:Iridogoniodysgenesis, dominant type
934:from the original on 3 October 2016
792:from the original on 3 October 2016
13:
3363:
1838:malformations and deformations of
1527:Scott, Ronald W. (November 1988).
1504:Kennedy, J. Michael (1987-10-17).
1438:Dore; et al. (January 1987).
1380:
1196:
1133:(7th ed.). Lippincott-Raven.
1119:
1058:
14:
3547:
3531:Transcription factor deficiencies
1671:to help reach a consensus. âș
1650:
1070:Pediatric Orthopedics in Practice
816:. AuthorHouse. 2013. p. 43.
3093:Lymphedemaâdistichiasis syndrome
2689:Trichoârhinoâphalangeal syndrome
2663:Familial partial lipodystrophy 3
1580:from the original on 2016-09-16.
1516:from the original on 2010-06-19.
1458:from the original on 2016-11-03.
989:UCSF Benioff Children's Hospital
973:from the original on 2016-10-03.
868:from the original on 2016-11-03.
830:from the original on 2017-11-05.
701:
661:
637:
606:
3357:(0) Other transcription factors
2648:Estrogen insensitivity syndrome
2616:Androgen insensitivity syndrome
2021:Congenital patellar dislocation
1900:WallisâZieffâGoldblatt syndrome
1625:Starr, Michael (11 June 2020).
1591:Shapiro, Milly (7 March 2019).
1561:
1520:
1497:
1462:
1431:
1408:
1354:
1292:from the original on 2015-06-26
1274:
1249:
1224:
1172:
1147:
693:
261:from Greek ÎșÏÎ±ÎœÎŻÎż 'skull', and
3238:Hyperimmunoglobulin E syndrome
2643:PHA1AD pseudohypoaldosteronism
1568:Oyla, Gabrielle (2016-09-12).
1446:. January 1987 (214): 229â34.
977:
946:
804:
616:skull radiograph showing open
319:due to hypoplasia of maxilla (
265:'formation of abnormal bone'.
1:
3500:Atrichia with papular lesions
1656:
738:
3207:Popliteal pterygium syndrome
3149:Enlarged vestibular aqueduct
2988:Waardenburg syndrome 1&3
2773:(3) Helix-turn-helix domains
2532:relating to deficiencies of
1483:10.1016/0278-2391(91)90380-5
706:In 1987, a young girl named
685:
676:
586:
552:located on the short arm of
7:
3307:Premature ovarian failure 7
3163:Premature ovarian failure 3
3035:Congenital hypothyroidism 2
2307:Oto-palato-digital syndrome
2302:HallermannâStreiff syndrome
2026:Congenital knee dislocation
1844:musculoskeletal abnormality
1546:10.2519/jospt.1988.10.5.184
1014:Garg RK, Agrawal P (2008).
656:in cleidocranial dysplasia.
531:
10:
3552:
3454:Transcription coregulators
3224:with minor groove contacts
2611:Thyroid hormone resistance
2338:Craniodiaphyseal dysplasia
1282:"Cleidocranial dysostosis"
1257:"Cleidocranial dysostosis"
1206:Vanderwerf, Sally (1998).
985:"Cleidocranial Dysostosis"
361:Open skull sutures, large
3486:
3476:RubinsteinâTaybi syndrome
3461:
3452:
3383:
3356:
3336:
3302:SRY XY gonadal dysgenesis
3272:
3246:
3230:
3221:
3187:
3107:BamforthâLazarus syndrome
3059:
2959:
2779:
2772:
2752:
2719:Duane-radial ray syndrome
2697:
2676:
2668:SF1 XY gonadal dysgenesis
2598:
2589:
2569:
2548:
2541:
2472:
2448:
2424:
2415:
2370:
2320:
2312:Treacher Collins syndrome
2282:
2254:
2245:
2236:
2202:
2163:reduction deficits / limb
2162:
2106:
2099:
2034:
1991:
1954:
1945:
1908:
1876:
1867:
1850:
1767:
1686:
1261:Mount Sinai Health System
1072:. Springer. p. 478.
924:"Cleidocranial Dysplasia"
889:rarediseases.info.nih.gov
885:"Cleidocranial dysplasia"
782:"cleidocranial dysplasia"
548:(also known as Runx2), a
431:have also been described.
354:Bossing (bulging) of the
323:) and other facial bones.
158:
148:
138:
114:
97:
85:
77:
63:
51:
46:
37:
29:
24:
3344:Cleidocranial dysostosis
2561:SaethreâChotzen syndrome
2137:CenaniâLenz syndactylism
1890:Cleidocranial dysostosis
1674:Cleidocranial dysostosis
1669:templates for discussion
1210:. Elsevier. p. 65.
1158:(1st ed.). Masson.
854:. Remedica. p. 92.
731:Sibling actress-singers
410:Vertebral abnormalities.
229:mandibuloacral dysplasia
211:. It is inherited in an
203:The condition is either
183:that mostly affects the
169:Cleidocranial dysostosis
121:Mandibuloacral dysplasia
25:Cleidocranial dysostosis
3321:Waardenburg syndrome 4c
3021:Coloboma of optic nerve
2869:Tooth and nail syndrome
2709:PallisterâHall syndrome
2284:Craniofacial dysostosis
1793:Cleidocranial Dysplasia
1154:Greene, Walter (2006).
1033:10.1186/1757-1626-1-377
544:caused by mutations in
347:Failure of eruption of
237:osteogenesis imperfecta
177:cleidocranial dysplasia
129:osteogenesis imperfecta
3264:Ulnarâmammary syndrome
3222:(4) ÎČ-Scaffold factors
3202:Van der Woude syndrome
2734:TownesâBrocks syndrome
2607:Intracellular receptor
1840:musculoskeletal system
1329:10.2334/josnusd.48.161
848:Young, Ian D. (2002).
464:atlantoaxial impaction
382:, producing a widened
278:
162:One per million people
154:Normal life expectancy
116:Differential diagnosis
103:Based on symptoms and
3438:Limbâmammary syndrome
3426:RappâHodgkin syndrome
3398:PittâHopkins syndrome
2974:Papillorenal syndrome
2949:MowatâWilson syndrome
2855:Nailâpatella syndrome
2739:Acrocallosal syndrome
2392:KlippelâFeil syndrome
1390:Lovell, Wood (2006).
1231:Menkes, John (2006).
1156:Netter's Orthopaedics
1068:Hefti, Fritz (2007).
417:irritation can occur.
276:
241:Hajdu-Cheney syndrome
223:with confirmation by
133:Hajdu-Cheney syndrome
3280:Campomelic dysplasia
3259:LiâFraumeni syndrome
2744:Myotonic dystrophy 2
2714:DenysâDrash syndrome
2534:transcription factor
2402:Spina bifida occulta
1918:Madelung's deformity
1895:Sprengel's deformity
460:basilar invagination
454:Other features are:
444:and knee deformities
392:can occur, limiting
3074:Axenfeld syndrome 3
2888:Axenfeld syndrome 1
2827:SPD1 synpolydactyly
2592:DNA-binding domains
2220:RAPADILINO syndrome
1233:Child Neurology, 7e
1129:Juhl, John (1998).
652:and underdeveloped
628:and underdeveloped
413:On rare occasions,
403:Short middle fifth
342:supernumerary teeth
248:supportive measures
246:Treatment includes
207:or occurs as a new
3430:HayâWells syndrome
3254:HoltâOram syndrome
3016:Gillespie syndrome
2935:Fuchs' dystrophy 3
2813:Currarino syndrome
2082:Rocker bottom foot
1768:External resources
720:Dustin Henderson's
542:haploinsufficiency
538:autosomal dominant
516:, short / absent
496:, small and high
440:Increased risk of
398:Trendelenburg gait
279:
269:Signs and symptoms
213:autosomal dominant
3513:
3512:
3509:
3508:
3379:
3378:
3352:
3351:
3217:
3216:
2794:Ohtahara syndrome
2768:
2767:
2638:Kennedy's disease
2585:
2584:
2556:Feingold syndrome
2542:(1) Basic domains
2530:Genetic disorders
2496:
2495:
2492:
2491:
2488:
2487:
2417:Thoracic skeleton
2397:Spondylolisthesis
2366:
2365:
2232:
2231:
2228:
2227:
2095:
2094:
1941:
1940:
1802:
1801:
1510:Los Angeles Times
654:maxillary sinuses
630:paranasal sinuses
512:, short / absent
508:, absence of the
434:Wide nasal bridge
378:of bones forming
166:
165:
99:Diagnostic method
19:Medical condition
3543:
3459:
3458:
3361:
3360:
3228:
3227:
2799:Lissencephaly X2
2777:
2776:
2684:Barakat syndrome
2596:
2595:
2546:
2545:
2523:
2516:
2509:
2500:
2499:
2464:Pectus carinatum
2459:Pectus excavatum
2422:
2421:
2380:Spinal curvature
2372:Vertebral column
2292:Crouzon syndrome
2256:Craniosynostosis
2252:
2251:
2243:
2242:
2108:fingers and toes
2104:
2103:
2016:Discoid meniscus
1973:Upington disease
1952:
1951:
1874:
1873:
1865:
1864:
1829:
1822:
1815:
1806:
1805:
1684:
1683:
1644:
1643:
1641:
1639:
1622:
1616:
1615:
1613:
1611:
1605:
1600:. Archived from
1588:
1582:
1581:
1565:
1559:
1558:
1548:
1524:
1518:
1517:
1501:
1495:
1494:
1466:
1460:
1459:
1435:
1429:
1428:
1412:
1406:
1405:
1387:
1378:
1377:
1375:
1374:
1365:. Archived from
1358:
1352:
1351:
1341:
1331:
1307:
1301:
1300:
1298:
1297:
1278:
1272:
1271:
1269:
1267:
1253:
1247:
1246:
1228:
1222:
1221:
1203:
1194:
1193:
1176:
1170:
1169:
1151:
1145:
1144:
1126:
1117:
1116:
1099:
1084:
1083:
1065:
1056:
1055:
1045:
1035:
1011:
1005:
1004:
1002:
1000:
981:
975:
974:
950:
944:
943:
941:
939:
928:rarediseases.org
920:
905:
904:
902:
900:
881:
870:
869:
845:
832:
831:
808:
802:
801:
799:
797:
788:. January 2008.
778:
665:
641:
610:
477:structures with
315:The mandible is
81:Present at birth
58:Medical genetics
42:
22:
21:
3551:
3550:
3546:
3545:
3544:
3542:
3541:
3540:
3516:
3515:
3514:
3505:
3482:
3448:
3375:
3371:Kabuki syndrome
3348:
3332:
3268:
3242:
3223:
3213:
3183:
3055:
2955:
2764:
2748:
2693:
2672:
2591:
2590:(2) Zinc finger
2581:
2565:
2537:
2536:or coregulators
2527:
2497:
2484:
2480:Poland syndrome
2468:
2444:
2411:
2362:
2316:
2278:
2224:
2215:Larsen syndrome
2203:multiple joints
2198:
2158:
2091:
2030:
2011:Genu recurvatum
1987:
1964:Hip dislocation
1937:
1904:
1854:
1846:
1833:
1803:
1798:
1797:
1763:
1762:
1695:
1672:
1653:
1648:
1647:
1637:
1635:
1623:
1619:
1609:
1607:
1589:
1585:
1566:
1562:
1525:
1521:
1502:
1498:
1467:
1463:
1436:
1432:
1413:
1409:
1402:
1388:
1381:
1372:
1370:
1361:
1359:
1355:
1308:
1304:
1295:
1293:
1286:Radiopaedia.org
1280:
1279:
1275:
1265:
1263:
1255:
1254:
1250:
1243:
1229:
1225:
1218:
1204:
1197:
1190:
1178:
1177:
1173:
1166:
1152:
1148:
1141:
1127:
1120:
1113:
1101:
1100:
1087:
1080:
1066:
1059:
1012:
1008:
998:
996:
983:
982:
978:
967:
951:
947:
937:
935:
922:
921:
908:
898:
896:
883:
882:
873:
862:
846:
835:
824:
810:
809:
805:
795:
793:
786:GHR.nlm.nih.gov
780:
779:
746:
741:
725:Stranger Things
716:Gaten Matarazzo
708:Jessica McClure
704:
696:
688:
679:
674:
673:
672:
669:
666:
657:
642:
633:
611:
589:
562:differentiation
536:CCD is usually
534:
415:brachial plexus
380:symphysis pubis
349:permanent teeth
338:permanent teeth
271:
233:pyknodysostosis
225:genetic testing
175:), also called
143:Supportive care
125:pyknodysostosis
109:genetic testing
107:, confirmed by
20:
17:
12:
11:
5:
3549:
3539:
3538:
3533:
3528:
3511:
3510:
3507:
3506:
3504:
3503:
3490:
3488:
3484:
3483:
3481:
3480:
3479:
3478:
3465:
3463:
3456:
3450:
3449:
3447:
3446:
3445:
3444:
3416:
3415:
3414:
3402:
3401:
3400:
3387:
3385:
3381:
3380:
3377:
3376:
3374:
3373:
3367:
3365:
3358:
3354:
3353:
3350:
3349:
3347:
3346:
3340:
3338:
3334:
3333:
3331:
3330:
3329:
3328:
3323:
3311:
3310:
3309:
3304:
3292:
3287:
3282:
3276:
3274:
3270:
3269:
3267:
3266:
3261:
3256:
3250:
3248:
3244:
3243:
3241:
3240:
3234:
3232:
3225:
3219:
3218:
3215:
3214:
3212:
3211:
3210:
3209:
3204:
3191:
3189:
3185:
3184:
3182:
3181:
3180:
3179:
3167:
3166:
3165:
3153:
3152:
3151:
3139:
3138:
3137:
3125:
3124:
3123:
3111:
3110:
3109:
3097:
3096:
3095:
3083:
3082:
3081:
3076:
3063:
3061:
3057:
3056:
3054:
3053:
3052:
3051:
3039:
3038:
3037:
3025:
3024:
3023:
3018:
3006:
3005:
3004:
2992:
2991:
2990:
2978:
2977:
2976:
2963:
2961:
2957:
2956:
2954:
2953:
2952:
2951:
2939:
2938:
2937:
2932:
2920:
2919:
2918:
2906:
2905:
2904:
2892:
2891:
2890:
2878:
2877:
2876:
2871:
2859:
2858:
2857:
2845:
2844:
2843:
2831:
2830:
2829:
2817:
2816:
2815:
2803:
2802:
2801:
2796:
2783:
2781:
2774:
2770:
2769:
2766:
2765:
2763:
2762:
2756:
2754:
2750:
2749:
2747:
2746:
2741:
2736:
2731:
2726:
2721:
2716:
2711:
2701:
2699:
2695:
2694:
2692:
2691:
2686:
2680:
2678:
2674:
2673:
2671:
2670:
2665:
2660:
2655:
2650:
2645:
2640:
2635:
2634:
2633:
2628:
2623:
2613:
2602:
2600:
2593:
2587:
2586:
2583:
2582:
2580:
2579:
2577:Tietz syndrome
2573:
2571:
2567:
2566:
2564:
2563:
2558:
2552:
2550:
2543:
2539:
2538:
2526:
2525:
2518:
2511:
2503:
2494:
2493:
2490:
2489:
2486:
2485:
2483:
2482:
2476:
2474:
2470:
2469:
2467:
2466:
2461:
2455:
2453:
2446:
2445:
2443:
2442:
2437:
2431:
2429:
2419:
2413:
2412:
2410:
2409:
2404:
2399:
2394:
2389:
2388:
2387:
2376:
2374:
2368:
2367:
2364:
2363:
2361:
2360:
2355:
2350:
2345:
2343:Dolichocephaly
2340:
2335:
2330:
2324:
2322:
2318:
2317:
2315:
2314:
2309:
2304:
2299:
2294:
2288:
2286:
2280:
2279:
2277:
2276:
2274:Trigonocephaly
2271:
2266:
2260:
2258:
2249:
2247:Skull and face
2240:
2234:
2233:
2230:
2229:
2226:
2225:
2223:
2222:
2217:
2212:
2210:Arthrogryposis
2206:
2204:
2200:
2199:
2197:
2196:
2195:
2194:
2189:
2184:
2172:
2166:
2164:
2160:
2159:
2157:
2156:
2155:
2154:
2144:
2139:
2134:
2132:Arachnodactyly
2129:
2128:
2127:
2112:
2110:
2101:
2097:
2096:
2093:
2092:
2090:
2089:
2084:
2079:
2074:
2073:
2072:
2060:
2059:
2058:
2053:
2040:
2038:
2036:foot deformity
2032:
2031:
2029:
2028:
2023:
2018:
2013:
2008:
2003:
1997:
1995:
1989:
1988:
1986:
1985:
1980:
1975:
1970:
1960:
1958:
1949:
1943:
1942:
1939:
1938:
1936:
1935:
1930:
1925:
1920:
1914:
1912:
1910:hand deformity
1906:
1905:
1903:
1902:
1897:
1892:
1886:
1884:
1871:
1862:
1848:
1847:
1832:
1831:
1824:
1817:
1809:
1800:
1799:
1796:
1795:
1784:
1772:
1771:
1769:
1765:
1764:
1761:
1760:
1749:
1738:
1727:
1712:
1696:
1691:
1690:
1688:
1687:Classification
1681:
1680:
1652:
1651:External links
1649:
1646:
1645:
1617:
1583:
1560:
1539:(5): 184â188.
1519:
1496:
1477:(4): 405â409.
1461:
1430:
1407:
1400:
1379:
1353:
1302:
1273:
1248:
1241:
1223:
1216:
1195:
1188:
1171:
1164:
1146:
1139:
1118:
1111:
1085:
1078:
1057:
1006:
976:
965:
945:
906:
871:
860:
833:
822:
803:
743:
742:
740:
737:
703:
700:
695:
692:
687:
684:
678:
675:
671:
670:
667:
660:
658:
643:
636:
634:
612:
605:
602:
601:
600:
588:
585:
581:bone formation
533:
530:
468:metopic suture
466:), persistent
452:
451:
448:
445:
438:
435:
432:
418:
411:
408:
401:
387:
372:
366:
359:
352:
345:
334:
331:
324:
313:
307:, this allows
285:(cleido-) and
270:
267:
257:'collarbone',
164:
163:
160:
156:
155:
152:
146:
145:
140:
136:
135:
118:
112:
111:
101:
95:
94:
87:
83:
82:
79:
75:
74:
67:
61:
60:
55:
49:
48:
44:
43:
35:
34:
31:
27:
26:
18:
15:
9:
6:
4:
3:
2:
3548:
3537:
3536:Rare diseases
3534:
3532:
3529:
3527:
3524:
3523:
3521:
3501:
3497:
3496:
3492:
3491:
3489:
3485:
3477:
3474:
3473:
3472:
3471:
3467:
3466:
3464:
3460:
3457:
3455:
3451:
3443:
3439:
3435:
3431:
3427:
3424:
3423:
3422:
3421:
3417:
3413:
3410:
3409:
3408:
3407:
3403:
3399:
3396:
3395:
3394:
3393:
3389:
3388:
3386:
3382:
3372:
3369:
3368:
3366:
3362:
3359:
3355:
3345:
3342:
3341:
3339:
3335:
3327:
3324:
3322:
3319:
3318:
3317:
3316:
3312:
3308:
3305:
3303:
3300:
3299:
3298:
3297:
3293:
3291:
3288:
3286:
3283:
3281:
3278:
3277:
3275:
3271:
3265:
3262:
3260:
3257:
3255:
3252:
3251:
3249:
3245:
3239:
3236:
3235:
3233:
3229:
3226:
3220:
3208:
3205:
3203:
3200:
3199:
3198:
3197:
3193:
3192:
3190:
3186:
3178:
3175:
3174:
3173:
3172:
3168:
3164:
3161:
3160:
3159:
3158:
3154:
3150:
3147:
3146:
3145:
3144:
3140:
3136:
3133:
3132:
3131:
3130:
3126:
3122:
3119:
3118:
3117:
3116:
3112:
3108:
3105:
3104:
3103:
3102:
3098:
3094:
3091:
3090:
3089:
3088:
3084:
3080:
3077:
3075:
3072:
3071:
3070:
3069:
3065:
3064:
3062:
3058:
3050:
3047:
3046:
3045:
3044:
3040:
3036:
3033:
3032:
3031:
3030:
3026:
3022:
3019:
3017:
3014:
3013:
3012:
3011:
3007:
3003:
3000:
2999:
2998:
2997:
2993:
2989:
2986:
2985:
2984:
2983:
2979:
2975:
2972:
2971:
2970:
2969:
2965:
2964:
2962:
2958:
2950:
2947:
2946:
2945:
2944:
2940:
2936:
2933:
2931:
2928:
2927:
2926:
2925:
2921:
2917:
2914:
2913:
2912:
2911:
2907:
2903:
2900:
2899:
2898:
2897:
2893:
2889:
2886:
2885:
2884:
2883:
2879:
2875:
2872:
2870:
2867:
2866:
2865:
2864:
2860:
2856:
2853:
2852:
2851:
2850:
2846:
2842:
2839:
2838:
2837:
2836:
2832:
2828:
2825:
2824:
2823:
2822:
2818:
2814:
2811:
2810:
2809:
2808:
2804:
2800:
2797:
2795:
2792:
2791:
2790:
2789:
2785:
2784:
2782:
2778:
2775:
2771:
2761:
2758:
2757:
2755:
2751:
2745:
2742:
2740:
2737:
2735:
2732:
2730:
2727:
2725:
2722:
2720:
2717:
2715:
2712:
2710:
2706:
2703:
2702:
2700:
2696:
2690:
2687:
2685:
2682:
2681:
2679:
2675:
2669:
2666:
2664:
2661:
2659:
2656:
2654:
2651:
2649:
2646:
2644:
2641:
2639:
2636:
2632:
2629:
2627:
2624:
2622:
2619:
2618:
2617:
2614:
2612:
2608:
2604:
2603:
2601:
2597:
2594:
2588:
2578:
2575:
2574:
2572:
2568:
2562:
2559:
2557:
2554:
2553:
2551:
2547:
2544:
2540:
2535:
2531:
2524:
2519:
2517:
2512:
2510:
2505:
2504:
2501:
2481:
2478:
2477:
2475:
2471:
2465:
2462:
2460:
2457:
2456:
2454:
2451:
2447:
2441:
2438:
2436:
2433:
2432:
2430:
2427:
2423:
2420:
2418:
2414:
2408:
2407:Sacralization
2405:
2403:
2400:
2398:
2395:
2393:
2390:
2386:
2383:
2382:
2381:
2378:
2377:
2375:
2373:
2369:
2359:
2356:
2354:
2353:Plagiocephaly
2351:
2349:
2346:
2344:
2341:
2339:
2336:
2334:
2331:
2329:
2326:
2325:
2323:
2319:
2313:
2310:
2308:
2305:
2303:
2300:
2298:
2297:Hypertelorism
2295:
2293:
2290:
2289:
2287:
2285:
2281:
2275:
2272:
2270:
2267:
2265:
2264:Scaphocephaly
2262:
2261:
2259:
2257:
2253:
2250:
2248:
2244:
2241:
2239:
2235:
2221:
2218:
2216:
2213:
2211:
2208:
2207:
2205:
2201:
2193:
2190:
2188:
2185:
2183:
2180:
2179:
2178:
2177:
2173:
2171:
2168:
2167:
2165:
2161:
2153:
2150:
2149:
2148:
2147:Brachydactyly
2145:
2143:
2140:
2138:
2135:
2133:
2130:
2126:
2123:
2122:
2121:
2117:
2114:
2113:
2111:
2109:
2105:
2102:
2100:Either / both
2098:
2088:
2085:
2083:
2080:
2078:
2075:
2071:
2068:
2067:
2066:
2065:
2061:
2057:
2054:
2052:
2049:
2048:
2047:
2046:
2042:
2041:
2039:
2037:
2033:
2027:
2024:
2022:
2019:
2017:
2014:
2012:
2009:
2007:
2004:
2002:
1999:
1998:
1996:
1994:
1990:
1984:
1981:
1979:
1976:
1974:
1971:
1969:
1968:Hip dysplasia
1965:
1962:
1961:
1959:
1957:
1953:
1950:
1948:
1944:
1934:
1931:
1929:
1926:
1924:
1921:
1919:
1916:
1915:
1913:
1911:
1907:
1901:
1898:
1896:
1893:
1891:
1888:
1887:
1885:
1883:
1879:
1875:
1872:
1870:
1866:
1863:
1861:
1857:
1853:
1849:
1845:
1841:
1837:
1830:
1825:
1823:
1818:
1816:
1811:
1810:
1807:
1794:
1790:
1789:
1785:
1783:
1779:
1778:
1774:
1773:
1770:
1766:
1759:
1755:
1754:
1750:
1748:
1744:
1743:
1739:
1737:
1733:
1732:
1728:
1726:
1722:
1721:
1717:
1713:
1711:
1707:
1706:
1702:
1698:
1697:
1694:
1689:
1685:
1679:
1675:
1670:
1666:
1665:
1660:
1655:
1654:
1634:
1633:
1632:New York Post
1628:
1621:
1606:on 2021-12-23
1604:
1599:
1598:
1594:
1587:
1579:
1575:
1571:
1564:
1556:
1552:
1547:
1542:
1538:
1534:
1530:
1523:
1515:
1511:
1507:
1500:
1492:
1488:
1484:
1480:
1476:
1472:
1465:
1457:
1453:
1449:
1445:
1441:
1434:
1426:
1422:
1418:
1411:
1403:
1401:9780781753586
1397:
1393:
1386:
1384:
1369:on 2015-06-26
1368:
1364:
1357:
1349:
1345:
1340:
1335:
1330:
1325:
1321:
1317:
1313:
1306:
1291:
1287:
1283:
1277:
1262:
1258:
1252:
1244:
1242:9780781751049
1238:
1234:
1227:
1219:
1217:9780444824707
1213:
1209:
1202:
1200:
1191:
1189:9780443071096
1185:
1181:
1175:
1167:
1165:9781929007028
1161:
1157:
1150:
1142:
1140:9780397584215
1136:
1132:
1125:
1123:
1114:
1112:9780781742986
1108:
1104:
1098:
1096:
1094:
1092:
1090:
1081:
1079:9783540699644
1075:
1071:
1064:
1062:
1053:
1049:
1044:
1039:
1034:
1029:
1025:
1021:
1017:
1010:
994:
990:
986:
980:
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722:storyline on
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702:Notable cases
699:
691:
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664:
659:
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651:
650:gonial angles
647:
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627:
626:wormian bones
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511:
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490:hemivertebrae
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483:supernumerary
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437:Crooked teeth
436:
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429:syringomyelia
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369:Hypertelorism
367:
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321:micrognathism
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3462:Coactivator:
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2805:
2786:
2328:Macrocephaly
2174:
2170:Acheiropodia
2142:Ectrodactyly
2062:
2043:
1928:Oligodactyly
1923:Clinodactyly
1889:
1852:Appendicular
1786:
1775:
1751:
1740:
1729:
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1699:
1662:
1636:. Retrieved
1630:
1620:
1608:. Retrieved
1603:the original
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1371:. Retrieved
1367:the original
1356:
1322:(3): 161â6.
1319:
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1294:. Retrieved
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997:. Retrieved
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979:
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936:. Retrieved
927:
897:. Retrieved
888:
850:
812:
806:
794:. Retrieved
785:
730:
723:
713:
705:
697:
694:Epidemiology
689:
680:
597:
590:
578:endochondral
554:chromosome 6
535:
518:radial bones
506:illiac bones
479:hearing loss
453:
425:spina bifida
396:and causing
376:ossification
291:
280:
262:
258:
254:
252:
245:
202:
181:birth defect
176:
172:
168:
167:
2358:Saddle nose
2125:Webbed toes
2116:Polydactyly
2001:Genu valgum
1933:Polydactyly
1788:GeneReviews
1777:MedlinePlus
1657:âč The
1417:GeneReviews
1339:11449/69073
624:, multiple
622:fontanelles
570:osteoblasts
522:hypoplastic
494:spondylosis
363:fontanelles
193:collarbones
78:Usual onset
30:Other names
3520:Categories
2333:Platybasia
2269:Oxycephaly
2182:Phocomelia
2176:Ectromelia
2152:Stub thumb
2120:Syndactyly
2087:Hammer toe
2056:Pigeon toe
2006:Genu varum
1978:Coxa valga
1836:Congenital
1753:DiseasesDB
1574:People.com
1373:2015-06-26
1316:J Oral Sci
1296:2015-06-26
1266:30 January
1026:(1): 377.
899:29 October
739:References
648:, missing
574:membranous
566:stem cells
510:pubic bone
502:hypoplasia
328:fontanelle
317:prognathic
283:collarbone
263:dysostosis
71:collarbone
3384:Ungrouped
2385:Scoliosis
2192:Hemimelia
2077:Pes cavus
2070:Flat feet
2051:Club foot
1983:Coxa vara
1597:Instagram
999:2 October
938:2 October
796:2 October
686:Prognosis
677:Treatment
587:Diagnosis
526:phalanges
524:terminal
458:bossing,
442:flat foot
421:Scoliosis
405:phalanges
394:abduction
390:Coxa vara
384:symphysis
297:Clavicles
205:inherited
159:Frequency
150:Prognosis
139:Treatment
89:Genetic (
53:Specialty
2435:Cervical
1882:shoulder
1878:clavicle
1860:dysmelia
1659:template
1578:Archived
1555:18796963
1514:Archived
1456:Archived
1425:20301686
1348:17023750
1290:Archived
1052:19063717
993:Archived
971:Archived
932:Archived
893:Archived
866:Archived
828:Archived
790:Archived
646:premolar
620:, large
532:Genetics
498:scapulae
472:abnormal
456:parietal
374:Delayed
356:forehead
340:include
312:surgery.
305:vestiges
209:mutation
69:Missing
65:Symptoms
3135:ACD/MPV
2450:sternum
1747:D002973
1661:below (
1638:15 June
1610:15 June
1491:2005496
1452:3791747
1043:2614945
1020:Cases J
614:Lateral
287:cranium
259:cranial
179:, is a
3470:CREBBP
3290:MODY 5
3285:MODY 3
3049:STHAG3
3002:MODY 9
2910:POU3F4
2902:DFNA15
2896:POU4F3
2841:MODY 4
2821:HOXD13
2729:MRX 89
2724:MODY 7
2658:MODY 1
2473:other:
2187:Amelia
2064:valgus
1782:001589
1736:119600
1725:755.59
1678:Curlie
1664:Curlie
1553:
1489:
1450:
1423:
1398:
1346:
1239:
1214:
1186:
1162:
1137:
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963:
858:
820:
714:Actor
301:medial
255:cleido
239:, and
221:X-rays
191:. The
105:X-rays
86:Causes
3412:TNDM1
3406:ZFP57
3315:SOX10
3171:FOXP3
3157:FOXL2
3143:FOXI1
3129:FOXF1
3115:FOXE3
3101:FOXE1
3087:FOXC2
3068:FOXC1
2916:DFNX2
2882:PITX2
2849:LMX1B
2440:Bifid
2321:other
2238:Axial
2045:varus
1758:30594
1710:Q74.0
733:Milly
568:into
546:CBFA1
492:with
217:RUNX2
197:skull
189:teeth
185:bones
93:gene)
91:RUNX2
3442:OFC8
3420:TP63
3392:TCF4
3337:4.11
3196:IRF6
3177:IPEX
3043:PAX9
3029:PAX8
3010:PAX6
2996:PAX4
2982:PAX3
2968:PAX2
2943:ZEB2
2924:ZEB1
2874:OFC5
2863:MSX1
2835:PDX1
2807:MNX1
2631:CAIS
2626:MAIS
2621:PAIS
2426:ribs
1993:knee
1869:Arms
1856:limb
1742:MeSH
1731:OMIM
1720:9-CM
1640:2020
1612:2020
1551:PMID
1487:PMID
1448:PMID
1421:PMID
1396:ISBN
1344:PMID
1268:2023
1237:ISBN
1212:ISBN
1184:ISBN
1160:ISBN
1135:ISBN
1107:ISBN
1074:ISBN
1048:PMID
1001:2016
961:ISBN
940:2016
901:2017
856:ISBN
818:ISBN
798:2016
576:and
558:6p21
550:gene
486:ribs
427:and
336:The
187:and
3364:0.6
3296:SF1
3273:4.7
3247:4.3
3231:4.2
3188:3.5
3060:3.3
2960:3.2
2788:ARX
2780:3.1
2753:2.5
2698:2.3
2677:2.2
2609:):
2599:2.1
2570:1.3
2549:1.2
1956:hip
1947:Leg
1716:ICD
1701:ICD
1676:at
1541:doi
1479:doi
1334:hdl
1324:doi
1038:PMC
1028:doi
564:of
504:of
475:ear
173:CCD
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