103:
92:
58:
206:
185:, which codes for the gap junction protein connexin 43. Slightly different mutations in this gene may explain the different way the condition manifests in different families. Most people inherit this condition from one of their parents, but new cases do arise through novel mutations. The mutation has high
656:
74:(ODD syndrome) is an extremely rare genetic condition that typically results in small eyes, underdeveloped teeth, and syndactyly and malformation of the fourth and fifth fingers. It is considered a kind of
154:
are more common than average. The size of the eyes often interferes with learning to read; special eyeglasses may be required. Hair may be fine, thin, dry, or fragile; in some families, it is curly.
916:
1419:
157:
Neurologic abnormalities may be seen in adults. The neurologic changes may appear earlier in each subsequent generation and can include abnormal white matter, conductive
1611:
988:
964:
839:
181:
ODD is typically an autosomal dominant condition, but can be inherited as a recessive trait. It is generally believed to be caused by a mutation in the gene
240:
The actual incidence of this disease is not known, but as of 2002, only 243 cases had been reported in the scientific literature, suggesting an incidence of
342:
Boyadjiev SA, Jabs EW, LaBuda M, et al. (1999). "Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23".
1664:
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745:
1731:
1430:
1327:
422:
Loddenkemper T, Grote K, Evers S, Oelerich M, Stögbauer F (2002). "Neurological manifestations of the oculodentodigital dysplasia syndrome".
383:, McDonald-McGinn DM, Fischbeck KH, Kamholz J (1991). "Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter".
1597:
1517:
1380:
466:
Norton KK, Carey JC, Gutmann DH (1995). "Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family".
193:, which means that nearly all people with the gene show signs of the condition, but these signs can range from very mild to very obvious.
671:
1741:
1532:
1281:
1220:
1315:
771:
601:
Jones KL, Smith DW, Harvey MA, Hall BD, Quan L (1975). "Older paternal age and fresh gene mutation: data on additional disorders".
1079:
1074:
1578:
1583:
1163:
1007:
554:"A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome"
1691:
1645:
1206:
1002:
853:
309:
1567:
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858:
796:
1301:
1192:
959:
786:
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1621:
1091:
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682:
115:
People with ODD syndrome often have a characteristic appearance. Visible features of the condition include:
1736:
1138:
190:
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897:
731:
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902:
75:
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91:
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508:
468:
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1154:
619:
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534:
484:
440:
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361:
321:
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504:"Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia"
1505:
1410:
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1342:
1296:
1253:
1239:
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983:
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820:
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611:
573:
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524:
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432:
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310:"A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis"
280:
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937:
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553:
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503:
205:
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1477:
754:
380:
452:
1485:
687:
285:
267:
1685:
603:
268:"A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia"
266:
Vasconcellos JP, Melo MB, Schimiti RB, Bressanim NC, Costa FF, Costa VP (2005).
119:
424:
186:
143:
127:
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Kelly SC, Ratajczak P, Keller M, Purcell SM, Griffin T, Richard G (2006).
1558:
706:
665:
158:
151:
552:
Richardson RJ, Joss S, Tomkin S, Ahmed M, Sheridan E, Dixon MJ (2006).
173:, difficulty controlling the eyes, and bladder and bowel disturbances.
162:
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1120:
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866:
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123:
17:
520:
108:
Characteristics of teeth and fingers in oculodentodigital dysplasia
1526:
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1438:
1350:
1309:
1275:
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1247:
1233:
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1200:
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996:
977:
953:
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1639:
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1605:
1591:
1336:
910:
891:
676:
182:
727:
200:
502:
Paznekas WA, Boyadjiev SA, Shapiro RE, et al. (2003).
216:
638:
1675:
1557:
1516:
1409:
1326:
1162:
1153:
1090:
945:
936:
883:
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697:
642:
37:
32:
417:
415:
337:
335:
261:
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739:
8:
244:one affected person in ten million people.
1159:
942:
767:
746:
732:
724:
639:
56:
29:
1651:Progressive symmetric erythrokeratodermia
577:
528:
284:
1665:Clouston's hidrotic ectodermal dysplasia
253:
1612:Keratitis–ichthyosis–deafness syndrome
1431:Congenital absence of the vas deferens
65:Woman with oculodentodigital dysplasia
7:
1282:Jervell and Lange-Nielsen syndrome
1221:Jervell and Lange-Nielsen syndrome
25:
1692:Nephrogenic diabetes insipidus 2
1080:Congenital insensitivity to pain
1075:Paroxysmal extreme pain disorder
1003:Hypokalemic periodic paralysis 2
854:Hypokalemic periodic paralysis 1
204:
146:of the fourth and fifth fingers.
101:
90:
1584:Hypoplastic left heart syndrome
1395:Thyrotoxic periodic paralysis 2
1008:Hyperkalemic periodic paralysis
859:Thyrotoxic periodic paralysis 1
1646:Erythrokeratodermia variabilis
1598:Charcot–Marie–Tooth disease X1
1302:Familial atrial fibrillation 3
1207:Spinocerebellar ataxia type-13
1193:Familial atrial fibrillation 7
960:Familial hemiplegic migraine 3
787:Familial hemiplegic migraine 1
1:
1732:Autosomal recessive disorders
1492:Vitelliform macular dystrophy
1018:Potassium-aggravated myotonia
797:Spinocerebellar ataxia type-6
616:10.1016/S0022-3476(75)80709-8
286:10.1001/archopht.123.10.1422
42:Oculo-dento-digital syndrome
1579:Hallermann–Streiff syndrome
1574:Oculodentodigital dysplasia
1139:Pseudohypoaldosteronism 1AR
50:Oculodentoosseous dysplasia
46:Oculodentodigital dysplasia
33:Oculodentodigital dysplasia
1758:
72:Oculodentodigital syndrome
1742:Syndromes affecting teeth
1702:
122:that are prone to dental
64:
55:
755:Diseases of ion channels
1357:Andersen–Tawil syndrome
570:10.1136/jmg.2005.037655
481:10.1002/ajmg.1320570320
398:10.1002/ajmg.1320410106
161:, and various kinds of
1622:Bart–Pumphrey syndrome
1013:Paramyotonia congenita
898:Malignant hyperthermia
358:10.1006/geno.1999.5814
213:This section is empty.
1547:Mucolipidosis type IV
1092:Constitutively active
437:10.1007/s004150200068
1478:Osteopetrosis A2, B4
1287:Romano–Ward syndrome
903:Central core disease
76:ectodermal dysplasia
1032:Long QT syndrome 10
1627:Vohwinkel syndrome
1617:Ichthyosis hystrix
1506:Bartter syndrome 3
1450:Myotonia congenita
1362:Long QT syndrome 7
1343:Bartter syndrome 2
1297:Long QT syndrome 1
1254:Brugada syndrome 5
1240:Long QT syndrome 6
1226:Long QT syndrome 5
1070:Febrile seizure 3B
1051:Long QT syndrome 3
1046:Brugada syndrome 1
984:Brugada syndrome 6
970:Febrile seizure 3A
873:Brugada syndrome 4
821:Long QT syndrome 8
816:Brugada syndrome 3
698:External resources
509:Am. J. Hum. Genet.
469:Am. J. Med. Genet.
386:Am. J. Med. Genet.
171:spastic paraplegia
133:a long, thin nose;
82:Signs and symptoms
1714:
1713:
1405:
1404:
1367:Short QT syndrome
1292:Short QT syndrome
1268:Short QT syndrome
1179:Episodic ataxia 1
1155:Potassium channel
1149:
1148:
1113:Liddle's syndrome
932:
931:
835:Ocular albinism 2
792:Episodic ataxia 2
721:
720:
273:Arch. Ophthalmol.
233:
232:
150:Iris atrophy and
69:
68:
27:Medical condition
16:(Redirected from
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1411:Chloride channel
1328:Inward-rectifier
1160:
943:
811:Timothy syndrome
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215:You can help by
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1445:Thomsen disease
1426:Cystic fibrosis
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1322:
1145:
1086:
1065:Erythromelalgia
928:
879:
763:Calcium channel
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242:on the order of
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137:unusually small
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12:
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1737:Genodermatoses
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1464:Dent's disease
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1157:
1151:
1150:
1147:
1146:
1144:
1143:
1142:
1141:
1117:
1116:
1115:
1096:
1094:
1088:
1087:
1085:
1084:
1083:
1082:
1077:
1072:
1067:
1055:
1054:
1053:
1048:
1036:
1035:
1034:
1022:
1021:
1020:
1015:
1010:
1005:
993:
992:
991:
986:
974:
973:
972:
967:
962:
949:
947:
940:
938:Sodium channel
934:
933:
930:
929:
927:
926:
925:
924:
919:
907:
906:
905:
900:
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643:Classification
636:
635:External links
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629:
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544:
521:10.1086/346090
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314:Eur J Dermatol
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279:(10): 1422–6.
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128:underdeveloped
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1727:Rare diseases
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1469:
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1190:
1189:
1188:
1184:
1180:
1177:
1176:
1175:
1174:
1170:
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1167:
1165:
1164:Voltage-gated
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1158:
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1140:
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1129:
1128:
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946:Voltage-gated
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920:
918:
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772:Voltage-gated
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558:J. Med. Genet
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515:(2): 408–18.
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478:
475:(3): 458–61.
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431:(5): 584–95.
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189:and variable
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130:tooth enamel;
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1707:ion channels
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1437:
1418:
1387:
1373:
1349:
1335:
1308:
1274:
1260:
1246:
1232:
1213:
1199:
1185:
1171:
1131:
1125:
1119:
1105:
1099:
1057:
1038:
1024:
995:
976:
952:
909:
890:
884:Ligand gated
865:
846:
827:
803:
779:
705:
681:
670:
666:Q87.8 Q87.8
655:
607:
602:
596:
561:
557:
547:
512:
507:
497:
472:
467:
461:
428:
423:
392:(1): 18–20.
389:
384:
379:Gutmann DH,
374:
352:(1): 34–40.
349:
343:
320:(3): 241–5.
317:
313:
303:
276:
271:
239:
236:Epidemiology
224:October 2021
221:
217:adding to it
212:
180:
165:, including
156:
149:
114:
71:
70:
49:
45:
41:
1518:TRP channel
610:(1): 84–8.
604:J. Pediatr.
126:because of
120:small teeth
38:Other names
1721:Categories
1705:See also:
564:(7): e37.
425:J. Neurol.
248:References
191:expression
187:penetrance
144:syndactyly
381:Zackai EH
197:Diagnosis
142:type III
139:eyes; and
1559:Connexin
707:Orphanet
588:16816024
539:12457340
453:34554090
445:12021949
366:10331943
345:Genomics
326:16709485
295:16219735
177:Genetics
159:deafness
152:glaucoma
989:GEFS+ 1
965:GEFS+ 2
848:CACNA1S
829:CACNA1F
805:CACNA1C
781:CACNA1A
688:C563160
624:1110452
579:2564566
489:7677152
406:1659191
163:paresis
1541:TRPML1
1500:CLCNKB
1389:KCNJ18
1375:KCNJ11
1133:SCNN1G
1127:SCNN1B
1121:SCNN1A
1107:SCNN1G
1101:SCNN1B
867:CACNB2
840:CSNB2A
677:164200
622:
586:
576:
537:
530:379233
527:
487:
451:
443:
404:
364:
324:
293:
167:ataxia
124:caries
48:, and
1677:Porin
1533:FSGS2
1527:TRPC6
1486:BEST1
1472:CLCN7
1458:CLCN5
1439:CLCN1
1381:TNDM3
1351:KCNJ2
1337:KCNJ1
1316:BFNS1
1310:KCNQ2
1276:KCNQ1
1262:KCNH2
1248:KCNE3
1234:KCNE2
1215:KCNE1
1201:KCNC3
1187:KCNA5
1173:KCNA1
1059:SCN9A
1040:SCN5A
1026:SCN4B
997:SCN4A
978:SCN1B
954:SCN1A
922:ARVD2
917:CPVT1
449:S2CID
1686:AQP2
1659:GJB6
1640:GJB4
1636:GJB3
1606:GJB2
1592:GJB1
1568:GJA1
1420:CFTR
911:RYR2
892:RYR1
712:2710
683:MeSH
672:OMIM
620:PMID
584:PMID
535:PMID
485:PMID
441:PMID
402:PMID
362:PMID
322:PMID
291:PMID
183:GJA1
18:ODDD
657:ICD
612:doi
574:PMC
566:doi
525:PMC
517:doi
477:doi
433:doi
429:249
394:doi
354:doi
281:doi
277:123
219:.
1723::
710::
686::
675::
664::
661:10
618:.
608:86
582:.
572:.
562:43
560:.
556:.
533:.
523:.
513:72
506:.
483:.
473:57
447:.
439:.
414:^
400:.
390:41
360:.
350:58
348:.
334:^
318:16
316:.
312:.
289:.
270:.
256:^
169:,
78:.
44:,
1638:/
1629:)
1130:/
1124:/
1104:/
747:e
740:t
733:v
659:-
649:D
626:.
614::
590:.
568::
541:.
519::
491:.
479::
455:.
435::
408:.
396::
368:.
356::
328:.
297:.
283::
226:)
222:(
20:)
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