Knowledge (XXG)

Metacarpal synostosis

Source 📝

29: 402:
Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, Hecht J, Krawitz P, et al. (September 2013). "Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion".
905: 131:
There are usually no serious health complications associated with this condition, although severe cases which also involve syndactyly might interfere with hand function.
705: 852:"Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease" 583:"Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease" 359:
Lonardo F, Della Monica M, Riccardi G, Riccio I, Riccio V, Scarano G (February 2004). "A family with X-linked recessive fusion of metacarpals IV and V".
115:
The fusion of two or more metacarpal bones is the characteristic feature of this malformation, however this itself causes more symptoms, such as
259:
A large family has been described as having nonsense mutations of the FGF16 gene which resulted in metacarpal synostosis and, unexpectedly, in
28: 487:
Jones B, Byers H, Watson JS, Newman WG (July 2014). "Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion".
719:
Elalaoui, Siham Chafai; Jdioui, Wafae; Guaoua, Soukaina; Jaouad, Imane Cherkaoui; Madhi, Tarik; Sefiani, Abdelaziz (2015-01-06).
522:
Annerén G, Amilon A (August 1994). "X-linked recessive fusion of metacarpals IV and V and hypoplastic metacarpal V".
681: 240: 280: 754:"Correction of 4th and 5th metacarpal synostosis in a skeletally mature hand using de-rotational osteotomies" 203: 140: 92: 850:
Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, et al. (September 2014).
581:
Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, et al. (September 2014).
144: 96: 193: 87:
is a rare congenital difference which is characterized by the fusion of 2 (or, in rare cases, more)
159: 428: 384: 281:"Metacarpals 4 and 5 fusion - About the Disease - Genetic and Rare Diseases Information Center" 881: 832: 783: 699: 662: 654: 612: 539: 504: 469: 420: 376: 341: 208: 45: 721:"Report of the First Moroccan Case of Fusion of Metacarpals 4/5 and Review of the Literature" 871: 863: 822: 814: 773: 765: 732: 646: 602: 594: 531: 496: 459: 412: 368: 251:
This condition is thought to affect approximately 0.02% to 0.07% of the general population.
120: 60: 50: 37: 147:
metacarpals is caused by X-linked recessive mutations (alterations or duplications) in the
876: 851: 827: 802: 778: 753: 607: 582: 464: 447: 720: 634: 162:, and can occur alongside other isolated congenital hand/foot malformations including 91:
of the hand, which are usually shortened. It is most commonly seen as a fusion of the
899: 650: 260: 107:. Autosomal dominant and X-linked recessive inheritance patterns have been reported. 36:
Metacarpal synostosis affecting the fourth and fifth metacarpals of a left hand with
432: 388: 152: 116: 769: 557: 416: 500: 198: 171: 88: 230: 167: 163: 104: 100: 818: 658: 123:, and reduced range of mobility of the fingers supported by the metacarpals. 535: 223: 885: 836: 787: 616: 508: 424: 380: 329: 666: 543: 473: 345: 372: 189:
The following diagnostic methods can be used for metacarpal synostosis:
737: 867: 598: 304: 219:
Treatment for this malformation typically involves the following:
148: 70:
rare, less than 0.07% of the population is born with this trait
233:(for lengthening of shortened metacarpals, usually the fifth) 801:
Gottschalk MB, Danilevich M, Gottschalk HP (September 2016).
448:"Metacarpal 4-5 fusion with X-linked recessive inheritance" 803:"Carpal Coalitions and Metacarpal Synostoses: A Review" 226:(for splitting/separating the synostosic metacarpals) 181:
has metacarpal and metatarsal synostosis as symptoms.
633:
Buck-Gramcko, Dieter; Wood, Virchel E. (1993-07-01).
330:"[Familial synostosis of metacarpi IV and V]" 74: 66: 56: 44: 21: 758:Case Reports in Plastic Surgery & Hand Surgery 446:Holmes LB, Wolf E, Miettinen OS (September 1972). 158:It is a feature of various rare disorders such as 305:"OMIM Entry #309630 - Metacarpal 4-5 Fusion; MF4" 334:Zeitschrift für Orthopädie und Ihre Grenzgebiete 906:Congenital disorders of musculoskeletal system 8: 725:International Journal of Clinical Pediatrics 361:American Journal of Medical Genetics. Part A 752:Liao CD, Yamin F, Simpson RL (2022-12-31). 704:: CS1 maint: numeric names: authors list ( 99:metacarpals. It is a type of non-syndromic 27: 18: 875: 856:Molecular Genetics & Genomic Medicine 826: 777: 736: 606: 587:Molecular Genetics & Genomic Medicine 463: 328:Habighorst LV, Albers P (November 1965). 635:"The treatment of metacarpal synostosis" 177:A syndromic form of syndactyly known as 121:shortening of the fused metacarpal bones 272: 697: 628: 626: 558:"Kegg Disease: Metacarpal 4-5 fusion" 7: 680:RESERVED, INSERM US14-- ALL RIGHTS. 524:American Journal of Medical Genetics 452:American Journal of Human Genetics 14: 239:4. Tendon transposition (for the 139:The variant of MS that fuses the 1: 770:10.1080/23320885.2021.2011290 417:10.1136/jmedgenet-2013-101659 241:extensor digiti minimi quinti 170:, metatarsal synostosis, and 682:"Orphanet: Search a disease" 651:10.1016/0363-5023(93)90292-B 501:10.1097/MCD.0000000000000043 639:The Journal of Hand Surgery 405:Journal of Medical Genetics 236:3. Ligament reconstruction 922: 285:rarediseases.info.nih.gov 35: 26: 819:10.1177/1558944715614860 536:10.1002/ajmg.1320520230 489:Clinical Dysmorphology 204:Whole exome sequencing 85:Metacarpal synostosis 22:Metacarpal synostosis 373:10.1002/ajmg.a.20382 194:Physical examination 111:Signs and symptoms 738:10.14740/ijcp176e 209:Sanger sequencing 179:syndactyly type V 82: 81: 16:Medical condition 913: 890: 889: 879: 847: 841: 840: 830: 798: 792: 791: 781: 749: 743: 742: 740: 716: 710: 709: 703: 695: 693: 692: 677: 671: 670: 630: 621: 620: 610: 578: 572: 571: 569: 568: 554: 548: 547: 519: 513: 512: 484: 478: 477: 467: 443: 437: 436: 399: 393: 392: 356: 350: 349: 325: 319: 318: 316: 315: 301: 295: 294: 292: 291: 277: 160:Apert's syndrome 61:Genetic mutation 51:Medical genetics 38:thumb hypoplasia 31: 19: 921: 920: 916: 915: 914: 912: 911: 910: 896: 895: 894: 893: 868:10.1002/mgg3.81 849: 848: 844: 800: 799: 795: 751: 750: 746: 718: 717: 713: 696: 690: 688: 679: 678: 674: 632: 631: 624: 599:10.1002/mgg3.81 580: 579: 575: 566: 564: 556: 555: 551: 521: 520: 516: 486: 485: 481: 445: 444: 440: 401: 400: 396: 358: 357: 353: 327: 326: 322: 313: 311: 303: 302: 298: 289: 287: 279: 278: 274: 269: 257: 249: 217: 187: 137: 129: 113: 17: 12: 11: 5: 919: 917: 909: 908: 898: 897: 892: 891: 862:(5): 402–411. 842: 813:(3): 271–277. 793: 744: 731:(4): 117–120. 711: 672: 645:(4): 565–581. 622: 593:(5): 402–411. 573: 549: 530:(2): 248–250. 514: 479: 458:(5): 562–568. 438: 411:(9): 579–584. 394: 367:(4): 407–410. 351: 340:(4): 521–525. 320: 296: 271: 270: 268: 265: 256: 253: 248: 245: 216: 213: 212: 211: 206: 201: 196: 186: 183: 136: 133: 128: 125: 112: 109: 80: 79: 76: 72: 71: 68: 64: 63: 58: 54: 53: 48: 42: 41: 33: 32: 24: 23: 15: 13: 10: 9: 6: 4: 3: 2: 918: 907: 904: 903: 901: 887: 883: 878: 873: 869: 865: 861: 857: 853: 846: 843: 838: 834: 829: 824: 820: 816: 812: 808: 804: 797: 794: 789: 785: 780: 775: 771: 767: 763: 759: 755: 748: 745: 739: 734: 730: 726: 722: 715: 712: 707: 701: 687: 686:www.orpha.net 683: 676: 673: 668: 664: 660: 656: 652: 648: 644: 640: 636: 629: 627: 623: 618: 614: 609: 604: 600: 596: 592: 588: 584: 577: 574: 563: 562:www.genome.jp 559: 553: 550: 545: 541: 537: 533: 529: 525: 518: 515: 510: 506: 502: 498: 494: 490: 483: 480: 475: 471: 466: 461: 457: 453: 449: 442: 439: 434: 430: 426: 422: 418: 414: 410: 406: 398: 395: 390: 386: 382: 378: 374: 370: 366: 362: 355: 352: 347: 343: 339: 335: 331: 324: 321: 310: 306: 300: 297: 286: 282: 276: 273: 266: 264: 262: 261:heart disease 254: 252: 246: 244: 242: 237: 234: 232: 227: 225: 220: 214: 210: 207: 205: 202: 200: 197: 195: 192: 191: 190: 184: 182: 180: 175: 173: 169: 165: 161: 156: 154: 150: 146: 142: 134: 132: 127:Complications 126: 124: 122: 118: 110: 108: 106: 102: 98: 94: 90: 86: 77: 73: 69: 65: 62: 59: 55: 52: 49: 47: 43: 39: 34: 30: 25: 20: 859: 855: 845: 810: 806: 796: 764:(1): 15–21. 761: 757: 747: 728: 724: 714: 689:. Retrieved 685: 675: 642: 638: 590: 586: 576: 565:. Retrieved 561: 552: 527: 523: 517: 495:(3): 95–97. 492: 488: 482: 455: 451: 441: 408: 404: 397: 364: 360: 354: 337: 333: 323: 312:. Retrieved 308: 299: 288:. Retrieved 284: 275: 258: 255:Associations 250: 247:Epidemiology 238: 235: 228: 221: 218: 188: 178: 176: 157: 153:chromosome X 138: 130: 117:clinodactyly 114: 84: 83: 199:Radiographs 172:polydactyly 89:metacarpals 691:2022-09-10 567:2022-06-09 314:2022-06-09 290:2022-06-09 267:References 231:Bone graft 168:cleft hand 164:syndactyly 105:synostosis 101:syndactyly 659:0363-5023 224:Osteotomy 215:Treatment 185:Diagnosis 151:gene, in 67:Frequency 46:Specialty 900:Category 886:25333065 837:27698627 788:34993272 700:cite web 617:25333065 509:24878828 425:23709756 381:14735591 309:omim.org 877:4190875 828:5030847 779:8725938 667:8394398 608:4190875 544:7802024 474:4538283 465:1762184 433:9501794 389:9168511 346:4223440 40:type V. 884:  874:  835:  825:  786:  776:  665:  657:  615:  605:  542:  507:  472:  462:  431:  423:  387:  379:  344:  135:Causes 75:Deaths 57:Causes 429:S2CID 385:S2CID 149:FGF16 882:PMID 833:PMID 807:Hand 784:PMID 706:link 663:PMID 655:ISSN 613:PMID 540:PMID 505:PMID 470:PMID 421:PMID 377:PMID 365:124A 342:PMID 143:and 95:and 872:PMC 864:doi 823:PMC 815:doi 774:PMC 766:doi 733:doi 647:doi 603:PMC 595:doi 532:doi 497:doi 460:PMC 413:doi 369:doi 338:100 229:2. 222:1. 174:. 145:5th 141:4th 97:5th 93:4th 902:: 880:. 870:. 858:. 854:. 831:. 821:. 811:11 809:. 805:. 782:. 772:. 760:. 756:. 727:. 723:. 702:}} 698:{{ 684:. 661:. 653:. 643:18 641:. 637:. 625:^ 611:. 601:. 589:. 585:. 560:. 538:. 528:52 526:. 503:. 493:23 491:. 468:. 456:24 454:. 450:. 427:. 419:. 409:50 407:. 383:. 375:. 363:. 336:. 332:. 307:. 283:. 263:. 243:) 166:, 155:. 119:, 888:. 866:: 860:2 839:. 817:: 790:. 768:: 762:9 741:. 735:: 729:3 708:) 694:. 669:. 649:: 619:. 597:: 591:2 570:. 546:. 534:: 511:. 499:: 476:. 435:. 415:: 391:. 371:: 348:. 317:. 293:. 103:/ 78:-

Index


thumb hypoplasia
Specialty
Medical genetics
Genetic mutation
metacarpals
4th
5th
syndactyly
synostosis
clinodactyly
shortening of the fused metacarpal bones
4th
5th
FGF16
chromosome X
Apert's syndrome
syndactyly
cleft hand
polydactyly
Physical examination
Radiographs
Whole exome sequencing
Sanger sequencing
Osteotomy
Bone graft
extensor digiti minimi quinti
heart disease
"Metacarpals 4 and 5 fusion - About the Disease - Genetic and Rare Diseases Information Center"
"OMIM Entry #309630 - Metacarpal 4-5 Fusion; MF4"

Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.