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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.
524: 231: 115: 3416: 3325: 3181: 3153: 3139: 3125: 3111: 3097: 2892: 2859: 1116:. Lippincott Williams & Wilkins. 2005. pp. 251–252. 1027:"Clinical spectrum of cleidocranial dysplasia: a case report" 556: 238:. Other conditions that can produce similar symptoms include 227: 207: 199: 101: 963: 3430: 3402: 3206: 3053: 3039: 3020: 3006: 2992: 2978: 2953: 2934: 2873: 2845: 2817: 2003: 560: 496: 195: 2436: 1966: 1879: 571:), which encodes a transcription factor required for the 485: 1219:
Elsevier's medical terminology for the practicing nurse
941:. National Organization for Rare Disorders, Inc. 2004. 58:
Adult male patient described by Marie and Sainton, 1898
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Turek's Orthopaedics: Principles And Their Application
902:. Genetic and Rare Diseases Information Center. 2016. 1540:"Cleidocranial Dysplasia - An Enigma Among Anomalies" 310:(collarbones) can be partly missing leaving only the 1693: 1544:
Journal of Orthopaedic & Sports Physical Therapy
3445:Ectrodactyly–ectodermal dysplasia–cleft syndrome 3 1612: 1405:. Lippincott Williams & Wilkins. p. 240. 1246:. Lippincott Williams & Wilkins. p. 307. 1479: 27:Birth defect of the collarbones, skull, and teeth 3528: 1638:"Meet new 'Doom Patrol' co-star Abigail Shapiro" 1403:Lovell & Winter's Pediatric Orthopaedics, 6e 1142:Paul and Juhl's essentials of radiologic imaging 1517:"Jessica Makes It to Safety—After 58 1/2 Hours" 1191:Textbook of Radiology and Imaging: Volume 2, 7e 824:Rare Genetic Disorders That Affect the Skeleton 341:failed to close, or the fontanelle closes late. 3537:Congenital disorders of musculoskeletal system 458:High risk of hearing loss caused by infections 3337:Yemenite deaf-blind hypopigmentation syndrome 2525: 1831: 300:deformities which people with it often have. 1455:Clinical Orthopaedics & Related Research 1314: 1024: 1018: 418:, sometimes causing short and wide fingers. 2532: 2518: 1838: 1824: 1216: 929: 927: 925: 923: 921: 890: 888: 886: 787: 785: 783: 781: 779: 49: 1595: 1555: 1482:Journal of Oral and Maxillofacial Surgery 1348: 1338: 1052: 1042: 777: 775: 773: 771: 769: 767: 765: 763: 761: 759: 2941:Posterior polymorphous corneal dystrophy 2771:Autoimmune polyendocrine syndrome type 1 1678:) is being considered for deletion. See 1108: 1106: 1104: 1102: 1100: 970:. Oxford University Press. p. 333. 854: 852: 850: 848: 606:can sometimes be observed in the skull. 283: 84:, prominent forehead, flat nose, shorter 3132:Anterior segment mesenchymal dysgenesis 1629: 1601: 1514: 918: 883: 14: 3529: 1425: 1400: 1241: 1164: 756: 2664:X-linked adrenal hypoplasia congenita 2513: 1819: 1635: 1537: 1396: 1394: 1212: 1210: 1135: 1133: 1097: 1078: 1074: 1072: 858: 845: 279: 226:manner. It is due to a defect in the 2716:Greig cephalopolysyndactyly syndrome 2359:Greig cephalopolysyndactyly syndrome 1578: 1448: 1139: 1006:from the original on 29 October 2016 906:from the original on 28 January 2017 3090:Iridogoniodysgenesis, dominant type 945:from the original on 3 October 2016 803:from the original on 3 October 2016 24: 3374: 1849:malformations and deformations of 1538:Scott, Ronald W. (November 1988). 1515:Kennedy, J. Michael (1987-10-17). 1449:Dore; et al. (January 1987). 1391: 1207: 1144:(7th ed.). Lippincott-Raven. 1130: 1069: 25: 3558: 3542:Transcription factor deficiencies 1682:to help reach a consensus. â€ș 1661: 1081:Pediatric Orthopedics in Practice 827:. AuthorHouse. 2013. p. 43. 3104:Lymphedema–distichiasis syndrome 2700:Tricho–rhino–phalangeal syndrome 2674:Familial partial lipodystrophy 3 1591:from the original on 2016-09-16. 1527:from the original on 2010-06-19. 1469:from the original on 2016-11-03. 1000:UCSF Benioff Children's Hospital 984:from the original on 2016-10-03. 879:from the original on 2016-11-03. 841:from the original on 2017-11-05. 712: 672: 648: 617: 3368:(0) Other transcription factors 2659:Estrogen insensitivity syndrome 2627:Androgen insensitivity syndrome 2032:Congenital patellar dislocation 1911:Wallis–Zieff–Goldblatt syndrome 1636:Starr, Michael (11 June 2020). 1602:Shapiro, Milly (7 March 2019). 1572: 1531: 1508: 1473: 1442: 1419: 1365: 1303:from the original on 2015-06-26 1285: 1260: 1235: 1183: 1158: 704: 272:from Greek ÎșÏÎ±ÎœÎŻÎż 'skull', and 3249:Hyperimmunoglobulin E syndrome 2654:PHA1AD pseudohypoaldosteronism 1579:Oyla, Gabrielle (2016-09-12). 1457:. January 1987 (214): 229–34. 988: 957: 815: 627:skull radiograph showing open 330:due to hypoplasia of maxilla ( 276:'formation of abnormal bone'. 13: 1: 3511:Atrichia with papular lesions 1667: 749: 3218:Popliteal pterygium syndrome 3160:Enlarged vestibular aqueduct 2999:Waardenburg syndrome 1&3 2784:(3) Helix-turn-helix domains 2543:relating to deficiencies of 1494:10.1016/0278-2391(91)90380-5 717:In 1987, a young girl named 696: 687: 597: 563:located on the short arm of 7: 3318:Premature ovarian failure 7 3174:Premature ovarian failure 3 3046:Congenital hypothyroidism 2 2318:Oto-palato-digital syndrome 2313:Hallermann–Streiff syndrome 2037:Congenital knee dislocation 1855:musculoskeletal abnormality 1557:10.2519/jospt.1988.10.5.184 1025:Garg RK, Agrawal P (2008). 667:in cleidocranial dysplasia. 542: 10: 3563: 3465:Transcription coregulators 3235:with minor groove contacts 2622:Thyroid hormone resistance 2349:Craniodiaphyseal dysplasia 1293:"Cleidocranial dysostosis" 1268:"Cleidocranial dysostosis" 1217:Vanderwerf, Sally (1998). 996:"Cleidocranial Dysostosis" 372:Open skull sutures, large 3497: 3487:Rubinstein–Taybi syndrome 3472: 3463: 3394: 3367: 3347: 3313:SRY XY gonadal dysgenesis 3283: 3257: 3241: 3232: 3198: 3118:Bamforth–Lazarus syndrome 3070: 2970: 2790: 2783: 2763: 2730:Duane-radial ray syndrome 2708: 2687: 2679:SF1 XY gonadal dysgenesis 2609: 2600: 2580: 2559: 2552: 2483: 2459: 2435: 2426: 2381: 2331: 2323:Treacher Collins syndrome 2293: 2265: 2256: 2247: 2213: 2174:reduction deficits / limb 2173: 2117: 2110: 2045: 2002: 1965: 1956: 1919: 1887: 1878: 1861: 1778: 1697: 1272:Mount Sinai Health System 1083:. Springer. p. 478. 935:"Cleidocranial Dysplasia" 900:rarediseases.info.nih.gov 896:"Cleidocranial dysplasia" 793:"cleidocranial dysplasia" 559:(also known as Runx2), a 442:have also been described. 365:Bossing (bulging) of the 334:) and other facial bones. 169: 159: 149: 125: 108: 96: 88: 74: 62: 57: 48: 40: 35: 3355:Cleidocranial dysostosis 2572:Saethre–Chotzen syndrome 2148:Cenani–Lenz syndactylism 1901:Cleidocranial dysostosis 1685:Cleidocranial dysostosis 1680:templates for discussion 1221:. Elsevier. p. 65. 1169:(1st ed.). Masson. 865:. Remedica. p. 92. 742:Sibling actress-singers 421:Vertebral abnormalities. 240:mandibuloacral dysplasia 222:. It is inherited in an 214:The condition is either 194:that mostly affects the 180:Cleidocranial dysostosis 132:Mandibuloacral dysplasia 36:Cleidocranial dysostosis 3332:Waardenburg syndrome 4c 3032:Coloboma of optic nerve 2880:Tooth and nail syndrome 2720:Pallister–Hall syndrome 2295:Craniofacial dysostosis 1804:Cleidocranial Dysplasia 1165:Greene, Walter (2006). 1044:10.1186/1757-1626-1-377 555:caused by mutations in 358:Failure of eruption of 248:osteogenesis imperfecta 188:cleidocranial dysplasia 140:osteogenesis imperfecta 3275:Ulnar–mammary syndrome 3233:(4) ÎČ-Scaffold factors 3213:Van der Woude syndrome 2745:Townes–Brocks syndrome 2618:Intracellular receptor 1851:musculoskeletal system 1340:10.2334/josnusd.48.161 859:Young, Ian D. (2002). 475:atlantoaxial impaction 393:, producing a widened 289: 173:One per million people 165:Normal life expectancy 127:Differential diagnosis 114:Based on symptoms and 3449:Limb–mammary syndrome 3437:Rapp–Hodgkin syndrome 3409:Pitt–Hopkins syndrome 2985:Papillorenal syndrome 2960:Mowat–Wilson syndrome 2866:Nail–patella syndrome 2750:Acrocallosal syndrome 2403:Klippel–Feil syndrome 1401:Lovell, Wood (2006). 1242:Menkes, John (2006). 1167:Netter's Orthopaedics 1079:Hefti, Fritz (2007). 428:irritation can occur. 287: 252:Hajdu-Cheney syndrome 234:with confirmation by 144:Hajdu-Cheney syndrome 3291:Campomelic dysplasia 3270:Li–Fraumeni syndrome 2755:Myotonic dystrophy 2 2725:Denys–Drash syndrome 2545:transcription factor 2413:Spina bifida occulta 1929:Madelung's deformity 1906:Sprengel's deformity 471:basilar invagination 465:Other features are: 455:and knee deformities 403:can occur, limiting 3085:Axenfeld syndrome 3 2899:Axenfeld syndrome 1 2838:SPD1 synpolydactyly 2603:DNA-binding domains 2231:RAPADILINO syndrome 1244:Child Neurology, 7e 1140:Juhl, John (1998). 663:and underdeveloped 639:and underdeveloped 424:On rare occasions, 414:Short middle fifth 353:supernumerary teeth 259:supportive measures 257:Treatment includes 218:or occurs as a new 3441:Hay–Wells syndrome 3265:Holt–Oram syndrome 3027:Gillespie syndrome 2946:Fuchs' dystrophy 3 2824:Currarino syndrome 2093:Rocker bottom foot 1779:External resources 731:Dustin Henderson's 553:haploinsufficiency 549:autosomal dominant 527:, short / absent 507:, small and high 451:Increased risk of 409:Trendelenburg gait 290: 280:Signs and symptoms 224:autosomal dominant 3524: 3523: 3520: 3519: 3390: 3389: 3363: 3362: 3228: 3227: 2805:Ohtahara syndrome 2779: 2778: 2649:Kennedy's disease 2596: 2595: 2567:Feingold syndrome 2553:(1) Basic domains 2541:Genetic disorders 2507: 2506: 2503: 2502: 2499: 2498: 2428:Thoracic skeleton 2408:Spondylolisthesis 2377: 2376: 2243: 2242: 2239: 2238: 2106: 2105: 1952: 1951: 1813: 1812: 1521:Los Angeles Times 665:maxillary sinuses 641:paranasal sinuses 523:, short / absent 519:, absence of the 445:Wide nasal bridge 389:of bones forming 177: 176: 110:Diagnostic method 30:Medical condition 16:(Redirected from 3554: 3470: 3469: 3372: 3371: 3239: 3238: 2810:Lissencephaly X2 2788: 2787: 2695:Barakat syndrome 2607: 2606: 2557: 2556: 2534: 2527: 2520: 2511: 2510: 2475:Pectus carinatum 2470:Pectus excavatum 2433: 2432: 2391:Spinal curvature 2383:Vertebral column 2303:Crouzon syndrome 2267:Craniosynostosis 2263: 2262: 2254: 2253: 2119:fingers and toes 2115: 2114: 2027:Discoid meniscus 1984:Upington disease 1963: 1962: 1885: 1884: 1876: 1875: 1840: 1833: 1826: 1817: 1816: 1695: 1694: 1655: 1654: 1652: 1650: 1633: 1627: 1626: 1624: 1622: 1616: 1611:. Archived from 1599: 1593: 1592: 1576: 1570: 1569: 1559: 1535: 1529: 1528: 1512: 1506: 1505: 1477: 1471: 1470: 1446: 1440: 1439: 1423: 1417: 1416: 1398: 1389: 1388: 1386: 1385: 1376:. Archived from 1369: 1363: 1362: 1352: 1342: 1318: 1312: 1311: 1309: 1308: 1289: 1283: 1282: 1280: 1278: 1264: 1258: 1257: 1239: 1233: 1232: 1214: 1205: 1204: 1187: 1181: 1180: 1162: 1156: 1155: 1137: 1128: 1127: 1110: 1095: 1094: 1076: 1067: 1066: 1056: 1046: 1022: 1016: 1015: 1013: 1011: 992: 986: 985: 961: 955: 954: 952: 950: 939:rarediseases.org 931: 916: 915: 913: 911: 892: 881: 880: 856: 843: 842: 819: 813: 812: 810: 808: 799:. January 2008. 789: 676: 652: 621: 488:structures with 326:The mandible is 92:Present at birth 69:Medical genetics 53: 33: 32: 21: 3562: 3561: 3557: 3556: 3555: 3553: 3552: 3551: 3527: 3526: 3525: 3516: 3493: 3459: 3386: 3382:Kabuki syndrome 3359: 3343: 3279: 3253: 3234: 3224: 3194: 3066: 2966: 2775: 2759: 2704: 2683: 2602: 2601:(2) Zinc finger 2592: 2576: 2548: 2547:or coregulators 2538: 2508: 2495: 2491:Poland syndrome 2479: 2455: 2422: 2373: 2327: 2289: 2235: 2226:Larsen syndrome 2214:multiple joints 2209: 2169: 2102: 2041: 2022:Genu recurvatum 1998: 1975:Hip dislocation 1948: 1915: 1865: 1857: 1844: 1814: 1809: 1808: 1774: 1773: 1706: 1683: 1664: 1659: 1658: 1648: 1646: 1634: 1630: 1620: 1618: 1600: 1596: 1577: 1573: 1536: 1532: 1513: 1509: 1478: 1474: 1447: 1443: 1424: 1420: 1413: 1399: 1392: 1383: 1381: 1372: 1370: 1366: 1319: 1315: 1306: 1304: 1297:Radiopaedia.org 1291: 1290: 1286: 1276: 1274: 1266: 1265: 1261: 1254: 1240: 1236: 1229: 1215: 1208: 1201: 1189: 1188: 1184: 1177: 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3349: 3345: 3344: 3342: 3341: 3340: 3339: 3334: 3322: 3321: 3320: 3315: 3303: 3298: 3293: 3287: 3285: 3281: 3280: 3278: 3277: 3272: 3267: 3261: 3259: 3255: 3254: 3252: 3251: 3245: 3243: 3236: 3230: 3229: 3226: 3225: 3223: 3222: 3221: 3220: 3215: 3202: 3200: 3196: 3195: 3193: 3192: 3191: 3190: 3178: 3177: 3176: 3164: 3163: 3162: 3150: 3149: 3148: 3136: 3135: 3134: 3122: 3121: 3120: 3108: 3107: 3106: 3094: 3093: 3092: 3087: 3074: 3072: 3068: 3067: 3065: 3064: 3063: 3062: 3050: 3049: 3048: 3036: 3035: 3034: 3029: 3017: 3016: 3015: 3003: 3002: 3001: 2989: 2988: 2987: 2974: 2972: 2968: 2967: 2965: 2964: 2963: 2962: 2950: 2949: 2948: 2943: 2931: 2930: 2929: 2917: 2916: 2915: 2903: 2902: 2901: 2889: 2888: 2887: 2882: 2870: 2869: 2868: 2856: 2855: 2854: 2842: 2841: 2840: 2828: 2827: 2826: 2814: 2813: 2812: 2807: 2794: 2792: 2785: 2781: 2780: 2777: 2776: 2774: 2773: 2767: 2765: 2761: 2760: 2758: 2757: 2752: 2747: 2742: 2737: 2732: 2727: 2722: 2712: 2710: 2706: 2705: 2703: 2702: 2697: 2691: 2689: 2685: 2684: 2682: 2681: 2676: 2671: 2666: 2661: 2656: 2651: 2646: 2645: 2644: 2639: 2634: 2624: 2613: 2611: 2604: 2598: 2597: 2594: 2593: 2591: 2590: 2588:Tietz syndrome 2584: 2582: 2578: 2577: 2575: 2574: 2569: 2563: 2561: 2554: 2550: 2549: 2537: 2536: 2529: 2522: 2514: 2505: 2504: 2501: 2500: 2497: 2496: 2494: 2493: 2487: 2485: 2481: 2480: 2478: 2477: 2472: 2466: 2464: 2457: 2456: 2454: 2453: 2448: 2442: 2440: 2430: 2424: 2423: 2421: 2420: 2415: 2410: 2405: 2400: 2399: 2398: 2387: 2385: 2379: 2378: 2375: 2374: 2372: 2371: 2366: 2361: 2356: 2354:Dolichocephaly 2351: 2346: 2341: 2335: 2333: 2329: 2328: 2326: 2325: 2320: 2315: 2310: 2305: 2299: 2297: 2291: 2290: 2288: 2287: 2285:Trigonocephaly 2282: 2277: 2271: 2269: 2260: 2258:Skull and face 2251: 2245: 2244: 2241: 2240: 2237: 2236: 2234: 2233: 2228: 2223: 2221:Arthrogryposis 2217: 2215: 2211: 2210: 2208: 2207: 2206: 2205: 2200: 2195: 2183: 2177: 2175: 2171: 2170: 2168: 2167: 2166: 2165: 2155: 2150: 2145: 2143:Arachnodactyly 2140: 2139: 2138: 2123: 2121: 2112: 2108: 2107: 2104: 2103: 2101: 2100: 2095: 2090: 2085: 2084: 2083: 2071: 2070: 2069: 2064: 2051: 2049: 2047:foot deformity 2043: 2042: 2040: 2039: 2034: 2029: 2024: 2019: 2014: 2008: 2006: 2000: 1999: 1997: 1996: 1991: 1986: 1981: 1971: 1969: 1960: 1954: 1953: 1950: 1949: 1947: 1946: 1941: 1936: 1931: 1925: 1923: 1921:hand deformity 1917: 1916: 1914: 1913: 1908: 1903: 1897: 1895: 1882: 1873: 1859: 1858: 1843: 1842: 1835: 1828: 1820: 1811: 1810: 1807: 1806: 1795: 1783: 1782: 1780: 1776: 1775: 1772: 1771: 1760: 1749: 1738: 1723: 1707: 1702: 1701: 1699: 1698:Classification 1692: 1691: 1663: 1662:External links 1660: 1657: 1656: 1628: 1594: 1571: 1550:(5): 184–188. 1530: 1507: 1488:(4): 405–409. 1472: 1441: 1418: 1411: 1390: 1364: 1313: 1284: 1259: 1252: 1234: 1227: 1206: 1199: 1182: 1175: 1157: 1150: 1129: 1122: 1096: 1089: 1068: 1017: 987: 976: 956: 917: 882: 871: 844: 833: 814: 754: 753: 751: 748: 714: 711: 706: 703: 698: 695: 689: 686: 682: 681: 678: 671: 669: 654: 647: 645: 623: 616: 613: 612: 611: 599: 596: 592:bone formation 544: 541: 479:metopic suture 477:), persistent 463: 462: 459: 456: 449: 446: 443: 429: 422: 419: 412: 398: 383: 377: 370: 363: 356: 345: 342: 335: 324: 318:, this allows 296:(cleido-) and 281: 278: 268:'collarbone', 175: 174: 171: 167: 166: 163: 157: 156: 151: 147: 146: 129: 123: 122: 112: 106: 105: 98: 94: 93: 90: 86: 85: 78: 72: 71: 66: 60: 59: 55: 54: 46: 45: 42: 38: 37: 29: 26: 9: 6: 4: 3: 2: 3559: 3548: 3547:Rare diseases 3545: 3543: 3540: 3538: 3535: 3534: 3532: 3512: 3508: 3507: 3503: 3502: 3500: 3496: 3488: 3485: 3484: 3483: 3482: 3478: 3477: 3475: 3471: 3468: 3466: 3462: 3454: 3450: 3446: 3442: 3438: 3435: 3434: 3433: 3432: 3428: 3424: 3421: 3420: 3419: 3418: 3414: 3410: 3407: 3406: 3405: 3404: 3400: 3399: 3397: 3393: 3383: 3380: 3379: 3377: 3373: 3370: 3366: 3356: 3353: 3352: 3350: 3346: 3338: 3335: 3333: 3330: 3329: 3328: 3327: 3323: 3319: 3316: 3314: 3311: 3310: 3309: 3308: 3304: 3302: 3299: 3297: 3294: 3292: 3289: 3288: 3286: 3282: 3276: 3273: 3271: 3268: 3266: 3263: 3262: 3260: 3256: 3250: 3247: 3246: 3244: 3240: 3237: 3231: 3219: 3216: 3214: 3211: 3210: 3209: 3208: 3204: 3203: 3201: 3197: 3189: 3186: 3185: 3184: 3183: 3179: 3175: 3172: 3171: 3170: 3169: 3165: 3161: 3158: 3157: 3156: 3155: 3151: 3147: 3144: 3143: 3142: 3141: 3137: 3133: 3130: 3129: 3128: 3127: 3123: 3119: 3116: 3115: 3114: 3113: 3109: 3105: 3102: 3101: 3100: 3099: 3095: 3091: 3088: 3086: 3083: 3082: 3081: 3080: 3076: 3075: 3073: 3069: 3061: 3058: 3057: 3056: 3055: 3051: 3047: 3044: 3043: 3042: 3041: 3037: 3033: 3030: 3028: 3025: 3024: 3023: 3022: 3018: 3014: 3011: 3010: 3009: 3008: 3004: 3000: 2997: 2996: 2995: 2994: 2990: 2986: 2983: 2982: 2981: 2980: 2976: 2975: 2973: 2969: 2961: 2958: 2957: 2956: 2955: 2951: 2947: 2944: 2942: 2939: 2938: 2937: 2936: 2932: 2928: 2925: 2924: 2923: 2922: 2918: 2914: 2911: 2910: 2909: 2908: 2904: 2900: 2897: 2896: 2895: 2894: 2890: 2886: 2883: 2881: 2878: 2877: 2876: 2875: 2871: 2867: 2864: 2863: 2862: 2861: 2857: 2853: 2850: 2849: 2848: 2847: 2843: 2839: 2836: 2835: 2834: 2833: 2829: 2825: 2822: 2821: 2820: 2819: 2815: 2811: 2808: 2806: 2803: 2802: 2801: 2800: 2796: 2795: 2793: 2789: 2786: 2782: 2772: 2769: 2768: 2766: 2762: 2756: 2753: 2751: 2748: 2746: 2743: 2741: 2738: 2736: 2733: 2731: 2728: 2726: 2723: 2721: 2717: 2714: 2713: 2711: 2707: 2701: 2698: 2696: 2693: 2692: 2690: 2686: 2680: 2677: 2675: 2672: 2670: 2667: 2665: 2662: 2660: 2657: 2655: 2652: 2650: 2647: 2643: 2640: 2638: 2635: 2633: 2630: 2629: 2628: 2625: 2623: 2619: 2615: 2614: 2612: 2608: 2605: 2599: 2589: 2586: 2585: 2583: 2579: 2573: 2570: 2568: 2565: 2564: 2562: 2558: 2555: 2551: 2546: 2542: 2535: 2530: 2528: 2523: 2521: 2516: 2515: 2512: 2492: 2489: 2488: 2486: 2482: 2476: 2473: 2471: 2468: 2467: 2465: 2462: 2458: 2452: 2449: 2447: 2444: 2443: 2441: 2438: 2434: 2431: 2429: 2425: 2419: 2418:Sacralization 2416: 2414: 2411: 2409: 2406: 2404: 2401: 2397: 2394: 2393: 2392: 2389: 2388: 2386: 2384: 2380: 2370: 2367: 2365: 2364:Plagiocephaly 2362: 2360: 2357: 2355: 2352: 2350: 2347: 2345: 2342: 2340: 2337: 2336: 2334: 2330: 2324: 2321: 2319: 2316: 2314: 2311: 2309: 2308:Hypertelorism 2306: 2304: 2301: 2300: 2298: 2296: 2292: 2286: 2283: 2281: 2278: 2276: 2275:Scaphocephaly 2273: 2272: 2270: 2268: 2264: 2261: 2259: 2255: 2252: 2250: 2246: 2232: 2229: 2227: 2224: 2222: 2219: 2218: 2216: 2212: 2204: 2201: 2199: 2196: 2194: 2191: 2190: 2189: 2188: 2184: 2182: 2179: 2178: 2176: 2172: 2164: 2161: 2160: 2159: 2158:Brachydactyly 2156: 2154: 2151: 2149: 2146: 2144: 2141: 2137: 2134: 2133: 2132: 2128: 2125: 2124: 2122: 2120: 2116: 2113: 2111:Either / both 2109: 2099: 2096: 2094: 2091: 2089: 2086: 2082: 2079: 2078: 2077: 2076: 2072: 2068: 2065: 2063: 2060: 2059: 2058: 2057: 2053: 2052: 2050: 2048: 2044: 2038: 2035: 2033: 2030: 2028: 2025: 2023: 2020: 2018: 2015: 2013: 2010: 2009: 2007: 2005: 2001: 1995: 1992: 1990: 1987: 1985: 1982: 1980: 1979:Hip dysplasia 1976: 1973: 1972: 1970: 1968: 1964: 1961: 1959: 1955: 1945: 1942: 1940: 1937: 1935: 1932: 1930: 1927: 1926: 1924: 1922: 1918: 1912: 1909: 1907: 1904: 1902: 1899: 1898: 1896: 1894: 1890: 1886: 1883: 1881: 1877: 1874: 1872: 1868: 1864: 1860: 1856: 1852: 1848: 1841: 1836: 1834: 1829: 1827: 1822: 1821: 1818: 1805: 1801: 1800: 1796: 1794: 1790: 1789: 1785: 1784: 1781: 1777: 1770: 1766: 1765: 1761: 1759: 1755: 1754: 1750: 1748: 1744: 1743: 1739: 1737: 1733: 1732: 1728: 1724: 1722: 1718: 1717: 1713: 1709: 1708: 1705: 1700: 1696: 1690: 1686: 1681: 1677: 1676: 1671: 1666: 1665: 1645: 1644: 1643:New York Post 1639: 1632: 1617:on 2021-12-23 1615: 1610: 1609: 1605: 1598: 1590: 1586: 1582: 1575: 1567: 1563: 1558: 1553: 1549: 1545: 1541: 1534: 1526: 1522: 1518: 1511: 1503: 1499: 1495: 1491: 1487: 1483: 1476: 1468: 1464: 1460: 1456: 1452: 1445: 1437: 1433: 1429: 1422: 1414: 1412:9780781753586 1408: 1404: 1397: 1395: 1380:on 2015-06-26 1379: 1375: 1368: 1360: 1356: 1351: 1346: 1341: 1336: 1332: 1328: 1324: 1317: 1302: 1298: 1294: 1288: 1273: 1269: 1263: 1255: 1253:9780781751049 1249: 1245: 1238: 1230: 1228:9780444824707 1224: 1220: 1213: 1211: 1202: 1200:9780443071096 1196: 1192: 1186: 1178: 1176:9781929007028 1172: 1168: 1161: 1153: 1151:9780397584215 1147: 1143: 1136: 1134: 1125: 1123:9780781742986 1119: 1115: 1109: 1107: 1105: 1103: 1101: 1092: 1090:9783540699644 1086: 1082: 1075: 1073: 1064: 1060: 1055: 1050: 1045: 1040: 1036: 1032: 1028: 1021: 1005: 1001: 997: 991: 983: 979: 977:9780195145021 973: 969: 968: 960: 944: 940: 936: 930: 928: 926: 924: 922: 905: 901: 897: 891: 889: 887: 878: 874: 872:9781901346428 868: 864: 863: 855: 853: 851: 849: 840: 836: 834:9781491815045 830: 826: 825: 818: 802: 798: 794: 788: 786: 784: 782: 780: 778: 776: 774: 772: 770: 768: 766: 764: 762: 760: 755: 747: 745: 740: 738: 737: 733:storyline on 732: 728: 723: 720: 713:Notable cases 710: 702: 694: 675: 670: 666: 662: 661:gonial angles 658: 651: 646: 642: 638: 637:wormian bones 634: 630: 629:skull sutures 626: 620: 615: 614: 610: 607: 605: 604:Wormian bones 595: 593: 590: 586: 582: 578: 574: 570: 566: 562: 558: 554: 550: 540: 538: 534: 530: 526: 525:fibular bones 522: 518: 514: 510: 506: 502: 501:hemivertebrae 498: 495: 494:supernumerary 491: 487: 484: 480: 476: 472: 468: 460: 457: 454: 450: 448:Crooked teeth 447: 444: 441: 440:syringomyelia 437: 433: 430: 427: 423: 420: 417: 413: 410: 406: 402: 399: 396: 392: 388: 384: 381: 380:Hypertelorism 378: 375: 371: 368: 364: 361: 357: 354: 350: 346: 343: 340: 336: 333: 332:micrognathism 329: 325: 321: 320:hypermobility 317: 313: 309: 306: 305: 304: 301: 299: 295: 286: 277: 275: 271: 267: 262: 260: 255: 253: 249: 245: 241: 237: 233: 229: 225: 221: 217: 212: 209: 205: 201: 197: 193: 189: 185: 181: 172: 168: 164: 162: 158: 155: 152: 148: 145: 141: 137: 133: 130: 128: 124: 121: 117: 113: 111: 107: 103: 99: 95: 91: 87: 83: 79: 77: 73: 70: 67: 65: 61: 56: 52: 47: 43: 39: 34: 19: 18:Cleidocranial 3504: 3498:Corepressor: 3479: 3473:Coactivator: 3429: 3415: 3401: 3354: 3324: 3305: 3205: 3180: 3166: 3152: 3138: 3124: 3110: 3096: 3077: 3052: 3038: 3019: 3005: 2991: 2977: 2952: 2933: 2919: 2905: 2891: 2872: 2858: 2844: 2830: 2816: 2797: 2339:Macrocephaly 2185: 2181:Acheiropodia 2153:Ectrodactyly 2073: 2054: 1939:Oligodactyly 1934:Clinodactyly 1900: 1863:Appendicular 1797: 1786: 1762: 1751: 1740: 1725: 1710: 1673: 1647:. Retrieved 1641: 1631: 1619:. Retrieved 1614:the original 1606: 1597: 1584: 1574: 1547: 1543: 1533: 1520: 1510: 1485: 1481: 1475: 1454: 1444: 1427: 1421: 1402: 1382:. Retrieved 1378:the original 1367: 1333:(3): 161–6. 1330: 1326: 1316: 1305:. Retrieved 1296: 1287: 1275:. Retrieved 1271: 1262: 1243: 1237: 1218: 1190: 1185: 1166: 1160: 1141: 1113: 1080: 1034: 1030: 1020: 1008:. Retrieved 999: 990: 966: 959: 947:. Retrieved 938: 908:. Retrieved 899: 861: 823: 817: 805:. Retrieved 796: 741: 734: 724: 716: 708: 705:Epidemiology 700: 691: 608: 601: 589:endochondral 565:chromosome 6 546: 529:radial bones 517:illiac bones 490:hearing loss 464: 436:spina bifida 407:and causing 387:ossification 302: 291: 273: 269: 265: 263: 256: 213: 192:birth defect 187: 183: 179: 178: 2369:Saddle nose 2136:Webbed toes 2127:Polydactyly 2012:Genu valgum 1944:Polydactyly 1799:GeneReviews 1788:MedlinePlus 1668:â€č The 1428:GeneReviews 1350:11449/69073 635:, multiple 633:fontanelles 581:osteoblasts 533:hypoplastic 505:spondylosis 374:fontanelles 204:collarbones 89:Usual onset 41:Other names 3531:Categories 2344:Platybasia 2280:Oxycephaly 2193:Phocomelia 2187:Ectromelia 2163:Stub thumb 2131:Syndactyly 2098:Hammer toe 2067:Pigeon toe 2017:Genu varum 1989:Coxa valga 1847:Congenital 1764:DiseasesDB 1585:People.com 1384:2015-06-26 1327:J Oral Sci 1307:2015-06-26 1277:30 January 1037:(1): 377. 910:29 October 750:References 659:, missing 585:membranous 577:stem cells 521:pubic bone 513:hypoplasia 339:fontanelle 328:prognathic 294:collarbone 274:dysostosis 82:collarbone 3395:Ungrouped 2396:Scoliosis 2203:Hemimelia 2088:Pes cavus 2081:Flat feet 2062:Club foot 1994:Coxa vara 1608:Instagram 1010:2 October 949:2 October 807:2 October 697:Prognosis 688:Treatment 598:Diagnosis 537:phalanges 535:terminal 469:bossing, 453:flat foot 432:Scoliosis 416:phalanges 405:abduction 401:Coxa vara 395:symphysis 308:Clavicles 216:inherited 170:Frequency 161:Prognosis 150:Treatment 100:Genetic ( 64:Specialty 2446:Cervical 1893:shoulder 1889:clavicle 1871:dysmelia 1670:template 1589:Archived 1566:18796963 1525:Archived 1467:Archived 1436:20301686 1359:17023750 1301:Archived 1063:19063717 1004:Archived 982:Archived 943:Archived 904:Archived 877:Archived 839:Archived 801:Archived 657:premolar 631:, large 543:Genetics 509:scapulae 483:abnormal 467:parietal 385:Delayed 367:forehead 351:include 323:surgery. 316:vestiges 220:mutation 80:Missing 76:Symptoms 3146:ACD/MPV 2461:sternum 1758:D002973 1672:below ( 1649:15 June 1621:15 June 1502:2005496 1463:3791747 1054:2614945 1031:Cases J 625:Lateral 298:cranium 270:cranial 190:, is a 3481:CREBBP 3301:MODY 5 3296:MODY 3 3060:STHAG3 3013:MODY 9 2921:POU3F4 2913:DFNA15 2907:POU4F3 2852:MODY 4 2832:HOXD13 2740:MRX 89 2735:MODY 7 2669:MODY 1 2484:other: 2198:Amelia 2075:valgus 1793:001589 1747:119600 1736:755.59 1689:Curlie 1675:Curlie 1564:  1500:  1461:  1434:  1409:  1357:  1250:  1225:  1197:  1173:  1148:  1120:  1087:  1061:  1051:  974:  869:  831:  725:Actor 312:medial 266:cleido 250:, and 232:X-rays 202:. The 116:X-rays 97:Causes 3423:TNDM1 3417:ZFP57 3326:SOX10 3182:FOXP3 3168:FOXL2 3154:FOXI1 3140:FOXF1 3126:FOXE3 3112:FOXE1 3098:FOXC2 3079:FOXC1 2927:DFNX2 2893:PITX2 2860:LMX1B 2451:Bifid 2332:other 2249:Axial 2056:varus 1769:30594 1721:Q74.0 744:Milly 579:into 557:CBFA1 503:with 228:RUNX2 208:skull 200:teeth 196:bones 104:gene) 102:RUNX2 3453:OFC8 3431:TP63 3403:TCF4 3348:4.11 3207:IRF6 3188:IPEX 3054:PAX9 3040:PAX8 3021:PAX6 3007:PAX4 2993:PAX3 2979:PAX2 2954:ZEB2 2935:ZEB1 2885:OFC5 2874:MSX1 2846:PDX1 2818:MNX1 2642:CAIS 2637:MAIS 2632:PAIS 2437:ribs 2004:knee 1880:Arms 1867:limb 1753:MeSH 1742:OMIM 1731:9-CM 1651:2020 1623:2020 1562:PMID 1498:PMID 1459:PMID 1432:PMID 1407:ISBN 1355:PMID 1279:2023 1248:ISBN 1223:ISBN 1195:ISBN 1171:ISBN 1146:ISBN 1118:ISBN 1085:ISBN 1059:PMID 1012:2016 972:ISBN 951:2016 912:2017 867:ISBN 829:ISBN 809:2016 587:and 569:6p21 561:gene 497:ribs 438:and 347:The 198:and 3375:0.6 3307:SF1 3284:4.7 3258:4.3 3242:4.2 3199:3.5 3071:3.3 2971:3.2 2799:ARX 2791:3.1 2764:2.5 2709:2.3 2688:2.2 2620:): 2610:2.1 2581:1.3 2560:1.2 1967:hip 1958:Leg 1727:ICD 1712:ICD 1687:at 1552:doi 1490:doi 1345:hdl 1335:doi 1049:PMC 1039:doi 575:of 515:of 486:ear 184:CCD 3533:: 3506:HR 2129:/ 1977:/ 1891:/ 1869:/ 1853:/ 1802:: 1791:: 1767:: 1756:: 1745:: 1734:: 1719:: 1716:10 1640:. 1587:. 1583:. 1560:. 1548:10 1546:. 1542:. 1523:. 1519:. 1496:. 1486:49 1484:. 1465:. 1453:. 1430:. 1393:^ 1353:. 1343:. 1331:48 1329:. 1325:. 1299:. 1295:. 1270:. 1209:^ 1132:^ 1099:^ 1071:^ 1057:. 1047:. 1033:. 1029:. 1002:. 998:. 980:. 937:. 920:^ 898:. 885:^ 875:. 847:^ 837:. 795:. 758:^ 739:. 594:. 539:. 531:, 511:, 499:, 492:, 481:, 434:, 254:. 246:, 242:, 142:, 138:, 134:, 3513:) 3509:( 3451:/ 3447:/ 3443:/ 3439:/ 2718:/ 2616:( 2533:e 2526:t 2519:v 2463:: 2439:: 1839:e 1832:t 1825:v 1729:- 1714:- 1704:D 1653:. 1625:. 1568:. 1554:: 1504:. 1492:: 1438:. 1415:. 1387:. 1361:. 1347:: 1337:: 1310:. 1281:. 1256:. 1231:. 1203:. 1179:. 1154:. 1126:. 1093:. 1065:. 1041:: 1035:1 1014:. 953:. 914:. 811:. 643:. 567:( 473:( 411:. 397:. 382:. 376:. 369:. 362:. 182:( 20:)

Index

Cleidocranial

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

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