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then the digit can stay. Some people may have intellectual disability, though this condition usually causes only mild impairment. Developmental assistance and early specialist intervention should be offered in the case of intellectual disability. People should be tested as an individual and be given proper assistance.
141:
responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of Greig cephalopolysyndactyly syndrome.
197:
The main treatment is surgery to fix the abnormalities in the limbs, like syndactyly. It is less important to repair the feet surgically, as it can cause complications, and it is not aesthetically important compared to the hands. If there is polydactyly with an extra digit that is fully functional,
176:
gene mutation. It can also be made if the person has a family member or relative with the disease. Possibly, antenatal ultrasound can detect macrocephaly, and a high-resolution ultrasound can detect polydactyly and syndactyly. There are a lot of differential diagnoses, including over 100 syndromes
140:
gene can cause Greig cephalopolysyndactyly syndrome. In some cases, the condition results from a chromosomal abnormality, such as a large deletion or translocation of genetic material, in the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is
171:
The disease is not easily definable. The main form of diagnosis is presumptive, if the person has the usual triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, macrocephaly, and hypertelorism. However, a definitive diagnosis can be made if there is a phenotype that is
126:
gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the
474:
73:
is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes
152:, and only one copy of the defective GLI3 gene is sufficient to cause the disorder. In cases of dominant inheritance, an affected person inherits the genetic mutation or chromosomal abnormality from one affected parent.
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1168:
90:
The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (
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452:
94:), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures and developmental delay.
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The outlook is usually good in the usual case of GCPS. Mostly, the biggest problem associated with the condition in mild intellectual impairment.
1973:
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and disorders that can cause polydactyly. However, there are a few diseases with an overlap that is significant. These diseases include:
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The foot of the patient with Greig cephalopolysyndactyly shows a partially duplicated hallux with cutaneous syndactyly of several digits.
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Rare instances of this disorder are sporadic, and occur in people with no history of the condition in their family.
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37:"GCPS" redirects here. For the Florida school district with the acronym GCPS (Gadsden County Public Schools), see
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Greig cephalopolysyndactyly syndrome is a chromosomal condition related to chromosome 7. Mutations in the
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protein plays a role in the normal shaping (patterning) of many organs and tissues before birth.
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Patient with Greig cephalopolysyndactyly syndrome showing hypertelorism and macrocephaly.
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Greig cephalopolysyndactyly syndrome has an autosomal dominant pattern of inheritance.
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Finger with syndactyly of many digits caused by Greig cephalopolysyndactyly.
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Disorder that affects development of the limbs, head, and face
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pattern, which means the defective gene is located on an
122:
gene cause Greig cephalopolysyndactyly syndrome. The
349:
2082:Ectrodactyly–ectodermal dysplasia–cleft syndrome 3
2165:
2174:Congenital disorders of musculoskeletal system
1974:Yemenite deaf-blind hypopigmentation syndrome
1162:
468:
1169:
1155:
475:
461:
255:"The Greig cephalopolysyndactyly syndrome"
78:) or an abnormally wide thumb or big toe (
55:
288:
270:
252:
1578:Posterior polymorphous corneal dystrophy
1408:Autoimmune polyendocrine syndrome type 1
157:
134:Different genetic changes involving the
109:
101:
1769:Anterior segment mesenchymal dysgenesis
14:
2166:
1301:X-linked adrenal hypoplasia congenita
1150:
456:
1353:Greig cephalopolysyndactyly syndrome
996:Greig cephalopolysyndactyly syndrome
430:Greig Cephalopolysyndactyly Syndrome
334:Greig cephalopolysyndactyly syndrome
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71:Greig cephalopolysyndactyly syndrome
50:Greig cephalopolysyndactyly syndrome
1727:Iridogoniodysgenesis, dominant type
253:Biesecker, Leslie G. (2008-04-24).
24:
2011:
486:malformations and deformations of
144:This condition is inherited in an
97:
25:
2210:
2179:Transcription factor deficiencies
326:
259:Orphanet Journal of Rare Diseases
231:
1741:Lymphedema–distichiasis syndrome
1337:Tricho–rhino–phalangeal syndrome
1311:Familial partial lipodystrophy 3
2005:(0) Other transcription factors
1296:Estrogen insensitivity syndrome
1264:Androgen insensitivity syndrome
669:Congenital patellar dislocation
548:Wallis–Zieff–Goldblatt syndrome
85:
1886:Hyperimmunoglobulin E syndrome
1291:PHA1AD pseudohypoaldosteronism
305:
39:Gadsden County School District
32:Gwinnett County Public Schools
13:
1:
2148:Atrichia with papular lesions
224:
192:
2184:Autosomal dominant disorders
1855:Popliteal pterygium syndrome
1797:Enlarged vestibular aqueduct
1636:Waardenburg syndrome 1&3
1421:(3) Helix-turn-helix domains
1180:relating to deficiencies of
201:
166:
7:
2194:Syndromes with macrocephaly
1955:Premature ovarian failure 7
1811:Premature ovarian failure 3
1683:Congenital hypothyroidism 2
955:Oto-palato-digital syndrome
950:Hallermann–Streiff syndrome
674:Congenital knee dislocation
492:musculoskeletal abnormality
214:The condition is named for
10:
2215:
2102:Transcription coregulators
1872:with minor groove contacts
1259:Thyroid hormone resistance
986:Craniodiaphyseal dysplasia
36:
29:
2134:
2124:Rubinstein–Taybi syndrome
2109:
2100:
2031:
2004:
1984:
1950:SRY XY gonadal dysgenesis
1920:
1894:
1878:
1869:
1835:
1755:Bamforth–Lazarus syndrome
1707:
1607:
1427:
1420:
1400:
1367:Duane-radial ray syndrome
1345:
1324:
1316:SF1 XY gonadal dysgenesis
1246:
1237:
1217:
1196:
1189:
1120:
1096:
1072:
1063:
1018:
968:
960:Treacher Collins syndrome
930:
902:
893:
884:
850:
811:reduction deficits / limb
810:
754:
747:
682:
639:
602:
593:
556:
524:
515:
498:
415:
353:
209:
63:
54:
49:
1992:Cleidocranial dysostosis
1209:Saethre–Chotzen syndrome
785:Cenani–Lenz syndactylism
538:Cleidocranial dysostosis
384:C537300 C537300, C537300
2189:Syndromes with dysmelia
1969:Waardenburg syndrome 4c
1669:Coloboma of optic nerve
1517:Tooth and nail syndrome
1357:Pallister–Hall syndrome
932:Craniofacial dysostosis
341:Genetics Home Reference
172:caused by a Gcps and a
1912:Ulnar–mammary syndrome
1870:(4) β-Scaffold factors
1850:Van der Woude syndrome
1382:Townes–Brocks syndrome
1255:Intracellular receptor
488:musculoskeletal system
272:10.1186/1750-1172-3-10
163:
115:
107:
2086:Limb–mammary syndrome
2074:Rapp–Hodgkin syndrome
2046:Pitt–Hopkins syndrome
1622:Papillorenal syndrome
1597:Mowat–Wilson syndrome
1503:Nail–patella syndrome
1387:Acrocallosal syndrome
1040:Klippel–Feil syndrome
216:David Middleton Greig
179:acrocallosal syndrome
161:
113:
105:
18:Cephalopolysyndactyly
1928:Campomelic dysplasia
1907:Li–Fraumeni syndrome
1392:Myotonic dystrophy 2
1362:Denys–Drash syndrome
1182:transcription factor
1050:Spina bifida occulta
566:Madelung's deformity
543:Sprengel's deformity
1722:Axenfeld syndrome 3
1536:Axenfeld syndrome 1
1475:SPD1 synpolydactyly
1240:DNA-binding domains
868:RAPADILINO syndrome
2078:Hay–Wells syndrome
1902:Holt–Oram syndrome
1664:Gillespie syndrome
1583:Fuchs' dystrophy 3
1461:Currarino syndrome
730:Rocker bottom foot
416:External resources
183:carpenter syndrome
164:
146:autosomal dominant
116:
108:
2161:
2160:
2157:
2156:
2027:
2026:
2000:
1999:
1865:
1864:
1442:Ohtahara syndrome
1416:
1415:
1286:Kennedy's disease
1233:
1232:
1204:Feingold syndrome
1190:(1) Basic domains
1178:Genetic disorders
1144:
1143:
1140:
1139:
1136:
1135:
1065:Thoracic skeleton
1045:Spondylolisthesis
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44:Medical condition
16:(Redirected from
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2107:
2106:
2009:
2008:
1876:
1875:
1447:Lissencephaly X2
1425:
1424:
1332:Barakat syndrome
1244:
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1171:
1164:
1157:
1148:
1147:
1112:Pectus carinatum
1107:Pectus excavatum
1070:
1069:
1028:Spinal curvature
1020:Vertebral column
940:Crouzon syndrome
904:Craniosynostosis
900:
899:
891:
890:
756:fingers and toes
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751:
664:Discoid meniscus
621:Upington disease
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2019:Kabuki syndrome
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1238:(2) Zinc finger
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1184:or coregulators
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1128:Poland syndrome
1116:
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863:Larsen syndrome
851:multiple joints
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659:Genu recurvatum
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922:Trigonocephaly
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895:Skull and face
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858:Arthrogryposis
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837:
832:
820:
814:
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808:
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787:
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780:Arachnodactyly
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758:
749:
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684:foot deformity
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558:hand deformity
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1736:
1732:
1728:
1725:
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1713:
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1674:
1670:
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1588:
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1569:
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1555:
1551:
1548:
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1537:
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1472:
1471:
1470:
1466:
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1437:
1433:
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1426:
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1419:
1409:
1406:
1405:
1403:
1399:
1393:
1390:
1388:
1385:
1383:
1380:
1378:
1375:
1373:
1370:
1368:
1365:
1363:
1360:
1358:
1354:
1351:
1350:
1348:
1344:
1338:
1335:
1333:
1330:
1329:
1327:
1323:
1317:
1314:
1312:
1309:
1307:
1304:
1302:
1299:
1297:
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1292:
1289:
1287:
1284:
1280:
1277:
1275:
1272:
1270:
1267:
1266:
1265:
1262:
1260:
1256:
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1251:
1249:
1245:
1242:
1236:
1226:
1223:
1222:
1220:
1216:
1210:
1207:
1205:
1202:
1201:
1199:
1195:
1192:
1188:
1183:
1179:
1172:
1167:
1165:
1160:
1158:
1153:
1152:
1149:
1129:
1126:
1125:
1123:
1119:
1113:
1110:
1108:
1105:
1104:
1102:
1099:
1095:
1089:
1086:
1084:
1081:
1080:
1078:
1075:
1071:
1068:
1066:
1062:
1056:
1055:Sacralization
1053:
1051:
1048:
1046:
1043:
1041:
1038:
1034:
1031:
1030:
1029:
1026:
1025:
1023:
1021:
1017:
1007:
1004:
1002:
1001:Plagiocephaly
999:
997:
994:
992:
989:
987:
984:
982:
979:
977:
974:
973:
971:
967:
961:
958:
956:
953:
951:
948:
946:
945:Hypertelorism
943:
941:
938:
937:
935:
933:
929:
923:
920:
918:
915:
913:
912:Scaphocephaly
910:
909:
907:
905:
901:
898:
896:
892:
889:
887:
883:
869:
866:
864:
861:
859:
856:
855:
853:
849:
841:
838:
836:
833:
831:
828:
827:
826:
825:
821:
819:
816:
815:
813:
809:
801:
798:
797:
796:
795:Brachydactyly
793:
791:
788:
786:
783:
781:
778:
774:
771:
770:
769:
765:
762:
761:
759:
757:
753:
750:
748:Either / both
746:
736:
733:
731:
728:
726:
723:
719:
716:
715:
714:
713:
709:
705:
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694:
690:
689:
687:
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681:
675:
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657:
655:
652:
650:
647:
646:
644:
642:
638:
632:
629:
627:
624:
622:
619:
617:
616:Hip dysplasia
613:
610:
609:
607:
605:
601:
598:
596:
592:
582:
579:
577:
574:
572:
569:
567:
564:
563:
561:
559:
555:
549:
546:
544:
541:
539:
536:
535:
533:
531:
527:
523:
520:
518:
514:
511:
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505:
501:
497:
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489:
485:
478:
473:
471:
466:
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438:
437:
433:
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418:
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407:
403:
402:
398:
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381:
380:
376:
374:
370:
369:
365:
364:
361:
356:
352:
346:
343:
340:
336:
335:
331:
330:
319:
318:Who Named It?
315:
314:
308:
300:
296:
291:
286:
282:
278:
273:
268:
264:
260:
256:
249:
247:
245:
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241:
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235:
230:
222:
220:
217:
207:
199:
190:
188:
184:
180:
175:
160:
156:
153:
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147:
142:
139:
138:
132:
130:
125:
121:
112:
104:
95:
93:
83:
81:
77:
72:
62:
58:
53:
48:
40:
33:
19:
2141:
2135:Corepressor:
2116:
2110:Coactivator:
2066:
2052:
2038:
1961:
1942:
1842:
1817:
1803:
1789:
1775:
1761:
1747:
1733:
1714:
1689:
1675:
1656:
1642:
1628:
1614:
1589:
1570:
1556:
1542:
1528:
1509:
1495:
1481:
1467:
1453:
1434:
1352:
995:
976:Macrocephaly
822:
818:Acheiropodia
790:Ectrodactyly
710:
691:
576:Oligodactyly
571:Clinodactyly
500:Appendicular
434:
423:
399:
388:
377:
366:
332:
311:
307:
262:
258:
213:
205:
196:
173:
170:
154:
143:
135:
133:
128:
123:
119:
117:
92:macrocephaly
89:
86:Presentation
70:
69:
1006:Saddle nose
773:Webbed toes
764:Polydactyly
649:Genu valgum
581:Polydactyly
425:GeneReviews
76:polydactyly
2168:Categories
981:Platybasia
917:Oxycephaly
830:Phocomelia
824:Ectromelia
800:Stub thumb
768:Syndactyly
735:Hammer toe
704:Pigeon toe
654:Genu varum
626:Coxa valga
484:Congenital
390:DiseasesDB
225:References
193:Management
2032:Ungrouped
1033:Scoliosis
840:Hemimelia
725:Pes cavus
718:Flat feet
699:Club foot
631:Coxa vara
401:SNOMED CT
313:synd/1859
281:1750-1172
265:(1): 10.
202:Prognosis
167:Diagnosis
1083:Cervical
530:shoulder
526:clavicle
508:dysmelia
436:Orphanet
406:32985001
299:18435847
150:autosome
1783:ACD/MPV
1098:sternum
290:2397380
2118:CREBBP
1938:MODY 5
1933:MODY 3
1697:STHAG3
1650:MODY 9
1558:POU3F4
1550:DFNA15
1544:POU4F3
1489:MODY 4
1469:HOXD13
1377:MRX 89
1372:MODY 7
1306:MODY 1
1121:other:
835:Amelia
712:valgus
373:175700
297:
287:
279:
210:Eponym
185:, and
80:hallux
2060:TNDM1
2054:ZFP57
1963:SOX10
1819:FOXP3
1805:FOXL2
1791:FOXI1
1777:FOXF1
1763:FOXE3
1749:FOXE1
1735:FOXC2
1716:FOXC1
1564:DFNX2
1530:PITX2
1497:LMX1B
1088:Bifid
969:other
886:Axial
693:varus
395:31558
2090:OFC8
2068:TP63
2040:TCF4
1985:4.11
1844:IRF6
1825:IPEX
1691:PAX9
1677:PAX8
1658:PAX6
1644:PAX4
1630:PAX3
1616:PAX2
1591:ZEB2
1572:ZEB1
1522:OFC5
1511:MSX1
1483:PDX1
1455:MNX1
1279:CAIS
1274:MAIS
1269:PAIS
1074:ribs
641:knee
517:Arms
504:limb
379:MeSH
368:OMIM
295:PMID
277:ISSN
219:FRSE
189:.
174:Gli3
137:Gli3
129:GLI3
124:GLI3
120:GLI3
2012:0.6
1944:SF1
1921:4.7
1895:4.3
1879:4.2
1836:3.5
1708:3.3
1608:3.2
1436:ARX
1428:3.1
1401:2.5
1346:2.3
1325:2.2
1257:):
1247:2.1
1218:1.3
1197:1.2
604:hip
595:Leg
441:380
339:NLM
337:at
316:at
285:PMC
267:doi
82:).
2170::
2143:HR
766:/
614:/
528:/
506:/
490:/
439::
428::
404::
393::
382::
371::
293:.
283:.
275:.
261:.
257:.
233:^
221:.
181:,
2150:)
2146:(
2088:/
2084:/
2080:/
2076:/
1355:/
1253:(
1170:e
1163:t
1156:v
1100::
1076::
476:e
469:t
462:v
360:D
301:.
269::
263:3
74:(
41:.
34:.
20:)
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