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Jung M, Rai A, Wang L, Puttmann K, Kukreja K, Koh CJ (2018). "Nephrolithiasis in a 17-Year-Old Male With Seckel
Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature".
637:
Harper RG, Orti E, Baker RK (May 1967). "Bird-beaded dwarfs (Seckel's syndrome). A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies".
2030:
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1808:
1057:
613:
Seckel, H. P. G. Bird-headed Dwarfs: Studies in
Developmental Anthropology Including Human Proportions. Springfield, Ill.: Charles C Thomas (pub.) 1960.
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238:) which maps to chromosome 3q22.1–q24. This gene is central in the cell's DNA damage response and repair mechanism.
2192:
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A mouse model has been developed. This mouse model is characterized by a severe deficiency of
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567:"A mouse model of ATR-Seckel shows embryonic replicative stress and accelerated aging"
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345:
153:. Adult Seckel mice display accelerated aging. These findings are consistent with the
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906:
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1426:
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228:. One form of Seckel syndrome can be caused by mutation in the gene encoding the
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130:, narrow bird-like face with a beak-like nose, large eyes with down-slanting
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1906:
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600:
538:
469:
658:
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1016:
879:
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423:(1900–1960). The synonym Harper's syndrome was named after pediatrician
1967:
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Harsha
Vardhan BG, Muthu MS, Saraswathi K, Koteeswaran D (2007).
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2009:
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protein. These mice have high levels of replicative stress and
379:
340:
1284:
Deficiencies of intracellular signaling peptides and proteins
565:
Murga M, Bunting S, Montaña MF, et al. (August 2009).
486:
The encyclopedia of genetic disorders and birth defects
419:
The syndrome was named after German–American physician
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356:
686:
172:(more than half of the patients have an IQ below 50)
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978:
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690:
217:It is believed to be caused by defects of genes on
71:
59:
37:
32:
483:James Wynbrandt; Mark D. Ludman (February 2008).
560:
558:
556:
2056:
2031:intracellular signaling peptides and proteins
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802:
8:
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1371:
1295:
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809:
795:
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687:
46:
29:
1893:EDARADD Hypohidrotic ectodermal dysplasia
590:
243:
75:defects of genes on chromosome 3 and 18.
448:
2262:Syndromes with intellectual disability
489:. Infobase Publishing. pp. 344–.
230:ataxia telangiectasia and Rad3-related
7:
1524:Neutrophil immunodeficiency syndrome
1407:Albright's hereditary osteodystrophy
1878:Signal transducing adaptor proteins
208:small chin due to receded lower jaw
1462:KRAS Cardiofaciocutaneous syndrome
1353:X-linked intellectual disability 1
1348:Juvenile primary lateral sclerosis
25:
1809:Bannayan–Riley–Ruvalcaba syndrome
1058:Bannayan–Riley–Ruvalcaba syndrome
1397:Progressive osseous heteroplasia
383:
344:
196:dislocations of pelvis and elbow
2002:PRKCSH Polycystic liver disease
120:intrauterine growth restriction
55:Boy with Seckel syndrome (left)
1988:Wolff–Parkinson–White syndrome
1392:Pseudopseudohypoparathyroidism
1291:GTP-binding protein regulators
865:Bonnet–Dechaume–Blanc syndrome
202:blindness or visual impairment
1:
1596:Cardiofaciocutaneous syndrome
1544:Chylomicron retention disease
860:Sakati–Nyhan–Tisdale syndrome
651:10.1016/S0022-3476(67)80334-2
531:10.1016/j.urology.2018.05.023
458:"Bird-headed dwarf of Seckel"
1838:X-linked myotubular myopathy
1098:Tatton-Brown–Rahman syndrome
1068:Benign symmetric lipomatosis
462:J Indian Soc Pedod Prev Dent
2257:Syndromes affecting stature
2252:Syndromes with microcephaly
1635:X-linked agammaglobulinemia
1479:Charcot–Marie–Tooth disease
1188:Branchio-oto-renal syndrome
1063:Beckwith–Wiedemann syndrome
105:bird-headed dwarf of Seckel
2283:
2193:Cornelia de Lange Syndrome
1338:Marinesco–Sjögren syndrome
1160:Zimmermann–Laband syndrome
1112:Laurence–Moon–Bardet–Biedl
1073:Klippel–Trénaunay syndrome
1023:Caudal regression syndrome
998:Klippel–Trénaunay syndrome
960:Smith–Lemli–Opitz syndrome
930:Cornelia de Lange syndrome
155:DNA damage theory of aging
2217:
2207:Schinzel–Giedion syndrome
2104:Treacher Collins syndrome
2026:
1946:Neurofibromatosis type II
1780:Pseudohypoaldosteronism 2
1507:Griscelli syndrome type 2
1300:GTPase-activating protein
1008:Rubinstein–Taybi syndrome
421:Helmut Paul George Seckel
118:. It is characterized by
114:disorder. Inheritance is
54:
45:
2109:Spinocerebellar ataxia 7
1814:Lhermitte–Duclos disease
1412:McCune–Albright syndrome
1402:Pseudohypoparathyroidism
1308:Neurofibromatosis type I
1078:Neurofibromatosis type I
965:Snyder–Robinson syndrome
915:1q21.1 deletion syndrome
855:Saethre–Chotzen syndrome
2118:Spinal muscular atrophy
1572:Bardet–Biedl syndrome 3
988:Adducted thumb syndrome
950:Silver–Russell syndrome
170:intellectual disability
140:intellectual disability
107:) is an extremely rare
101:Virchow–Seckel dwarfism
18:Virchow-Seckel syndrome
1720:Peutz–Jeghers syndrome
1706:Incontinentia pigmenti
1692:Li–Fraumeni syndrome 2
1343:Aarskog–Scott syndrome
1124:Laurence–Moon syndrome
920:Aarskog–Scott syndrome
875:Baller–Gerold syndrome
818:Congenital abnormality
392:This section is empty.
353:This section is empty.
1824:Proteus-like syndrome
1678:Coffin-Lowry syndrome
1119:Bardet–Biedl syndrome
1003:Nail–patella syndrome
895:Pierre Robin sequence
835:Acrocephalosyndactyly
437:Koo-Koo the Bird Girl
2242:Congenital disorders
1732:Myotonic dystrophy 1
1050:Overgrowth syndromes
199:unusually large eyes
93:bird-headed dwarfism
1038:VACTERL association
624:"Seckel's syndrome"
205:large, low-set ears
116:autosomal recessive
88:primordial dwarfism
1862:Metachondromatosis
1558:Joubert syndrome 8
1493:Carpenter syndrome
1328:Guanine nucleotide
1318:Tuberous sclerosis
993:Holt–Oram syndrome
885:Goldenhar syndrome
845:Carpenter syndrome
761:External resources
464:. 25 Suppl: S8–9.
184:(low blood counts)
165:Symptoms include:
161:Symptoms and signs
132:palpebral fissures
2229:
2228:
2168:Triple-A syndrome
2143:Seckel syndrome 4
2038:
2037:
1872:
1871:
1852:Noonan syndrome 1
1746:Seckel syndrome 1
1582:
1581:
1457:Noonan syndrome 3
1443:Costello syndrome
1361:
1360:
1251:
1250:
1148:Feingold syndrome
935:Dubowitz syndrome
925:Cockayne syndrome
850:Pfeiffer syndrome
784:
783:
677:Seckel's syndrome
496:978-0-8160-6396-3
412:
411:
373:
372:
334:
333:
97:Harper's syndrome
79:
78:
41:Harper's syndrome
27:Medical condition
16:(Redirected from
2274:
2247:Growth disorders
2071:Nucleus diseases
2065:
2058:
2051:
2042:
1857:LEOPARD syndrome
1760:Oguchi disease 2
1661:Serine/threonine
1649:ZAP70 deficiency
1616:
1372:
1296:
1278:
1271:
1264:
1255:
1232:Donohue syndrome
1208:Timothy syndrome
1088:Proteus syndrome
1083:Perlman syndrome
945:Robinow syndrome
890:Moebius syndrome
811:
804:
797:
788:
688:
663:
662:
634:
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473:
453:
407:
404:
394:You can help by
387:
380:
368:
365:
355:You can help by
348:
341:
244:
193:low birth weight
66:Medical genetics
50:
30:
21:
2282:
2281:
2277:
2276:
2275:
2273:
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2271:
2232:
2231:
2230:
2225:
2213:
2149:
2122:
2090:
2086:Revesz syndrome
2072:
2069:
2039:
2034:
2022:
1927:
1868:
1819:Cowden syndrome
1793:
1786:
1662:
1655:
1620:Tyrosine kinase
1600:
1578:
1421:
1357:
1330:exchange factor
1329:
1322:
1313:Watson syndrome
1285:
1282:
1252:
1247:
1220:Marfan syndrome
1204:Keutel syndrome
1192:CHARGE syndrome
1176:Fraser syndrome
1134:
1133:Combined/other,
1128:
1107:
1103:Weaver syndrome
1044:
974:
970:Turner syndrome
955:Seckel syndrome
940:Noonan syndrome
901:
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241:Types include:
215:
163:
91:(also known as
82:Seckel syndrome
33:Seckel syndrome
28:
23:
22:
15:
12:
11:
5:
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2270:
2269:
2267:Rare syndromes
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1974:Carney complex
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1310:
1304:
1302:
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1281:
1280:
1273:
1266:
1258:
1249:
1248:
1246:
1245:
1244:
1243:
1241:Fryns syndrome
1235:
1223:
1211:
1195:
1179:
1163:
1151:
1138:
1136:
1130:
1129:
1127:
1126:
1121:
1115:
1113:
1109:
1108:
1106:
1105:
1100:
1095:
1093:Sotos syndrome
1090:
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1080:
1075:
1070:
1065:
1060:
1054:
1052:
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898:
897:
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887:
882:
877:
869:
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867:
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857:
852:
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840:Apert syndrome
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691:Classification
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670:External links
668:
665:
664:
645:(5): 799–804.
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583:10.1038/ng.420
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122:and postnatal
86:microcephalic
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1376:Heterotrimeic
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907:Short stature
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682:Who Named It?
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403:December 2017
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364:December 2017
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19:
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2008:
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1435:
1225:
1213:
1197:
1181:
1165:
1153:
1141:
1013:Gastrulation
954:
827:Craniofacial
768:
744:
733:
718:
703:
675:
642:
638:
632:
618:
609:
577:(8): 891–8.
574:
570:
522:
518:
512:
500:. Retrieved
485:
478:
461:
451:
418:
400:
396:adding to it
391:
361:
357:adding to it
352:
323:
271:
240:
233:
216:
182:pancytopenia
176:microcephaly
164:
144:
104:
100:
96:
92:
85:
81:
80:
2175:Laminopathy
1794:phosphatase
1611:phosphatase
1135:known locus
1033:Sirenomelia
525:: 241–243.
134:, receding
38:Other names
2236:Categories
2128:Centromere
2114:Cajal body
1921:Zaspopathy
1588:MAP kinase
1028:Ectromelia
746:DiseasesDB
639:J. Pediatr
571:Nat. Genet
443:References
294:18p11–q11
219:chromosome
180:sometimes
151:DNA damage
128:small head
109:congenital
2220:see also
2096:Nucleolus
2029:See also
1907:Cherubism
1427:Monomeric
1367:G protein
1237:Multiple
820:syndromes
502:7 January
376:Treatment
337:Diagnosis
278:3q22–q24
232:protein (
112:nanosomic
61:Specialty
2078:Telomere
1792:Tyrosine
1017:mesoderm
880:Cyclopia
770:Orphanet
601:19620979
547:48353132
539:29894776
470:17921644
431:See also
213:Genetics
190:in males
136:mandible
124:dwarfism
2222:nucleus
1968:PRKAR1A
1960:CADASIL
1954:Notch 3
1887:EDARADD
1672:RPS6KA3
659:6022184
592:2902278
519:Urology
415:History
126:with a
2201:SETBP1
1996:PRKCSH
1982:PRKAG2
1901:SH3BP2
1846:PTPN11
1663:kinase
1607:kinase
1605:Other
1552:ARL13B
871:Other
740:210600
729:759.89
657:
599:
589:
545:
537:
493:
468:
330:13q12
319:613676
315:SCKL4
303:608664
299:SCKL3
287:606744
283:SCKL2
267:210600
263:SCKL1
258:Locus
72:Causes
2181:SMC1A
2154:Other
2137:CENPJ
2016:XIAP2
1932:Other
1714:STK11
1700:IKBKG
1686:CHEK2
1643:ZAP70
1538:SAR1B
1515:RHO:
1501:RAB27
1487:RAB23
1470:RAB:
1434:RAS:
1417:CGL 2
1388:GNAS1
980:Limbs
751:31625
714:Q87.1
543:S2CID
325:CENPJ
255:Gene
247:Type
84:, or
2187:SMC3
2162:AAAS
2010:XIAP
1915:LDB3
1832:MTM1
1803:PTEN
1774:WNK1
1768:WNK4
1754:GRK1
1727:DMPK
1566:ARL6
1518:RAC2
1473:RAB7
1451:KRAS
1437:HRAS
1384:cAMP
735:OMIM
724:9-CM
655:PMID
597:PMID
535:PMID
504:2011
491:ISBN
466:PMID
310:14q
251:OMIM
224:and
138:and
103:and
1940:NF2
1740:ATR
1629:BTK
1533:ARF
775:808
720:ICD
705:ICD
680:at
647:doi
587:PMC
579:doi
527:doi
523:120
398:.
359:.
273:ATR
235:ATR
147:ATR
2238::
2116::
1535::
1390::
1227:19
1215:15
1206:,
1199:12
1190:,
1171:13
1019::
773::
749::
738::
727::
712::
709:10
653:.
643:70
641:.
595:.
585:.
575:41
573:.
569:.
555:^
541:.
533:.
521:.
460:.
427:.
307:?
291:?
226:18
157:.
142:.
99:,
95:,
2184:/
2064:e
2057:t
2050:v
1771:/
1609:/
1386:/
1277:e
1270:t
1263:v
1234:)
1230:(
1222:)
1218:(
1210:)
1202:(
1194:)
1186:(
1183:8
1178:)
1174:(
1169:/
1167:4
1162:)
1158:(
1155:3
1150:)
1146:(
1143:2
1015:/
810:e
803:t
796:v
722:-
707:-
697:D
661:.
649::
626:.
603:.
581::
549:.
529::
506:.
472:.
405:)
401:(
366:)
362:(
222:3
20:)
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