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Cleidocranial dysostosis

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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
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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
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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.
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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
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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).
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Different features of the dysostosis are significant. Radiological imaging helps confirm the diagnosis. During gestation (pregnancy), clavicular size can be calculated using available nomograms.
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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".
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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
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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.
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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.
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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:
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Bones and joints are underdeveloped. People are shorter and their frames are smaller than their siblings who do not have the condition.
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part of the bone. In 10% of cases, they are completely missing. If the collarbones are completely missing or reduced to small
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brachial plexus irritation with pain and numbness, excision of the clavicular fragments can be performed to decompress it.
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are typically either poorly developed or absent, which allows the shoulders to be brought close together. The front of the
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and Abby Shapiro were born with cleidocranial dysplasia, a trait they share with their mother.
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Machol, Keren; et al. (November 16, 2017). "Cleidocranial Dysplasia Spectrum Disorder".
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Several studies have reported that life expectancy appears to be normal for people with CCD.
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Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
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Female child patient described by Marie and Sainton, 1898, showing absence of clavicles
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gene which is involved in bone formation. Diagnosis is suspected based on symptoms and
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Genetics for Orthopedic Surgeons: The Molecular Genetic Basis of Orthopedic Disorders
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Panoramic view of the jaws showing multiple unerupted supernumerary teeth mimicking
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Poor development of the clavicles and a bell-shaped rib cage in a person with CCD
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Tanaka JL, Ono E, Filho EM, Castilho JC, Moraes LC, Moraes ME (September 2006).
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Epstein, Charles J.; Erickson, Robert P.; Wynshaw-Boris, Anthony Joseph (2004).
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was born with cleidocranial dysplasia, which is incorporated into his character
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not end up using him, though McClure was successfully recovered from the well.
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Cleidocranial dysostosis is a general skeletal condition so named from the
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Cleidocranial dysplasia, Marie-Sainton syndrome, mutational dysostosis
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A soft spot or larger soft area in the top of the head where the
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Decreased bone density, resulting in increased risk of fractures
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Cleidocranial dysostosis affects about one per million people.
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Elsevier's medical terminology for the practicing nurse
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Adult male patient described by Marie and Sainton, 1898
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Turek's Orthopaedics: Principles And Their Application
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:
Journal of Orthopaedic & Sports Physical Therapy
3434:Ectrodactyly–ectodermal dysplasia–cleft 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 Safety—After 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. â€ș 1650: 1070:Pediatric Orthopedics in Practice 816:. AuthorHouse. 2013. p. 43. 3093:Lymphedema–distichiasis syndrome 2689:Tricho–rhino–phalangeal 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:Wallis–Zieff–Goldblatt 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 ÎșÏÎ±ÎœÎŻÎż 'skull', and 3238:Hyperimmunoglobulin E syndrome 2643:PHA1AD pseudohypoaldosteronism 1568:Oyla, Gabrielle (2016-09-12). 1446:. January 1987 (214): 229–34. 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:Hallermann–Streiff 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:Rubinstein–Taybi syndrome 3461: 3452: 3383: 3356: 3336: 3302:SRY XY gonadal dysgenesis 3272: 3246: 3230: 3221: 3187: 3107:Bamforth–Lazarus 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:Saethre–Chotzen syndrome 2137:Cenani–Lenz 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:Pallister–Hall 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:Ulnar–mammary syndrome 3222:(4) ÎČ-Scaffold factors 3202:Van der Woude syndrome 2734:Townes–Brocks 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:Limb–mammary syndrome 3426:Rapp–Hodgkin syndrome 3398:Pitt–Hopkins syndrome 2974:Papillorenal syndrome 2949:Mowat–Wilson syndrome 2855:Nail–patella syndrome 2739:Acrocallosal syndrome 2392:Klippel–Feil 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:Li–Fraumeni syndrome 2744:Myotonic dystrophy 2 2714:Denys–Drash 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:Hay–Wells syndrome 3254:Holt–Oram 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: 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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): 184–188. 1519: 1496: 1477:(4): 405–409. 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: 972: 968: 966:9780195145021 962: 958: 957: 949: 933: 929: 925: 919: 917: 915: 913: 911: 894: 890: 886: 880: 878: 876: 867: 863: 861:9781901346428 857: 853: 852: 844: 842: 840: 838: 829: 825: 823:9781491815045 819: 815: 814: 807: 791: 787: 783: 777: 775: 773: 771: 769: 767: 765: 763: 761: 759: 757: 755: 753: 751: 749: 744: 736: 734: 729: 727: 726: 722:storyline on 721: 717: 712: 709: 702:Notable cases 699: 691: 683: 664: 659: 655: 651: 650:gonial angles 647: 640: 635: 631: 627: 626:wormian bones 623: 619: 618:skull sutures 615: 609: 604: 603: 599: 596: 594: 593:Wormian bones 584: 582: 579: 575: 571: 567: 563: 559: 555: 551: 547: 543: 539: 529: 527: 523: 519: 515: 514:fibular bones 511: 507: 503: 499: 495: 491: 490:hemivertebrae 487: 484: 483:supernumerary 480: 476: 473: 469: 465: 461: 457: 449: 446: 443: 439: 437:Crooked teeth 436: 433: 430: 429:syringomyelia 426: 422: 419: 416: 412: 409: 406: 402: 399: 395: 391: 388: 385: 381: 377: 373: 370: 369:Hypertelorism 367: 364: 360: 357: 353: 350: 346: 343: 339: 335: 332: 329: 325: 322: 321:micrognathism 318: 314: 310: 309:hypermobility 306: 302: 298: 295: 294: 293: 290: 288: 284: 275: 266: 264: 260: 256: 251: 249: 244: 242: 238: 234: 230: 226: 222: 218: 214: 210: 206: 201: 198: 194: 190: 186: 182: 178: 174: 170: 161: 157: 153: 151: 147: 144: 141: 137: 134: 130: 126: 122: 119: 117: 113: 110: 106: 102: 100: 96: 92: 88: 84: 80: 76: 72: 68: 66: 62: 59: 56: 54: 50: 45: 41: 36: 32: 28: 23: 3493: 3487:Corepressor: 3468: 3462:Coactivator: 3418: 3404: 3390: 3343: 3313: 3294: 3194: 3169: 3155: 3141: 3127: 3113: 3099: 3085: 3066: 3041: 3027: 3008: 2994: 2980: 2966: 2941: 2922: 2908: 2894: 2880: 2861: 2847: 2833: 2819: 2805: 2786: 2328:Macrocephaly 2174: 2170:Acheiropodia 2142:Ectrodactyly 2062: 2043: 1928:Oligodactyly 1923:Clinodactyly 1889: 1852:Appendicular 1786: 1775: 1751: 1740: 1729: 1714: 1699: 1662: 1636:. Retrieved 1630: 1620: 1608:. Retrieved 1603:the original 1595: 1586: 1573: 1563: 1536: 1532: 1522: 1509: 1499: 1474: 1470: 1464: 1443: 1433: 1416: 1410: 1391: 1371:. Retrieved 1367:the original 1356: 1322:(3): 161–6. 1319: 1315: 1305: 1294:. Retrieved 1285: 1276: 1264:. Retrieved 1260: 1251: 1232: 1226: 1207: 1179: 1174: 1155: 1149: 1130: 1102: 1069: 1023: 1019: 1009: 997:. Retrieved 988: 979: 955: 948: 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:â€č 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:  1109:  1076:  1050:  1040:  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 3522:: 3495:HR 2118:/ 1966:/ 1880:/ 1858:/ 1842:/ 1791:: 1780:: 1756:: 1745:: 1734:: 1723:: 1708:: 1705:10 1629:. 1576:. 1572:. 1549:. 1537:10 1535:. 1531:. 1512:. 1508:. 1485:. 1475:49 1473:. 1454:. 1442:. 1419:. 1382:^ 1342:. 1332:. 1320:48 1318:. 1314:. 1288:. 1284:. 1259:. 1198:^ 1121:^ 1088:^ 1060:^ 1046:. 1036:. 1022:. 1018:. 991:. 987:. 969:. 926:. 909:^ 887:. 874:^ 864:. 836:^ 826:. 784:. 747:^ 728:. 583:. 528:. 520:, 500:, 488:, 481:, 470:, 423:, 243:. 235:, 231:, 131:, 127:, 123:, 3502:) 3498:( 3440:/ 3436:/ 3432:/ 3428:/ 2707:/ 2605:( 2522:e 2515:t 2508:v 2452:: 2428:: 1828:e 1821:t 1814:v 1718:- 1703:- 1693:D 1642:. 1614:. 1557:. 1543:: 1493:. 1481:: 1427:. 1404:. 1376:. 1350:. 1336:: 1326:: 1299:. 1270:. 1245:. 1220:. 1192:. 1168:. 1143:. 1115:. 1082:. 1054:. 1030:: 1024:1 1003:. 942:. 903:. 800:. 632:. 556:( 462:( 400:. 386:. 371:. 365:. 358:. 351:. 171:(

Index


Specialty
Medical genetics
Symptoms
collarbone
RUNX2
Diagnostic method
X-rays
genetic testing
Differential diagnosis
Mandibuloacral dysplasia
pyknodysostosis
osteogenesis imperfecta
Hajdu-Cheney syndrome
Supportive care
Prognosis
birth defect
bones
teeth
collarbones
skull
inherited
mutation
autosomal dominant
RUNX2
X-rays
genetic testing
mandibuloacral dysplasia
pyknodysostosis
osteogenesis imperfecta

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