40:
169:
160:
138:" refers to malformation of bone), the disorder was characterized by a number of clinical features which can be described by the rudimentary meanings of its former name. The developing fetus's skull and facial bones fuse early or are unable to expand. Thus, normal bone growth cannot occur. Fusion of different sutures leads to abnormal patterns of growth of the skull.
184:
429:
are typical outcomes. Without treatment, Crouzon syndrome can cause hearing and vision loss, exposure keratitis or conjunctivitis, drying of the cornea, hydrocephalus, sleep apnea, and breathing problems. To move the orbits forward, surgeons expose the skull and orbits and reshape the bone. To treat
288:
is present in some cases. The abnormalities in the manner in which the eyes fit in the eye sockets can cause vision problems, the most common of which is corneal exposure that can lead to visual impairment. Some people with the condition have a restricted airway and can experience severe problems
1017:
430:
the midface deficiency, surgeons can move the lower orbit and midface bones forward. Additionally, surgery can be performed to relieve pressure inside the skull, fix a cleft lip or palate, correct a malformed jaw, straighten crooked teeth, or correct eye problems.
1010:
914:
899:
1003:
1711:
2203:
2511:
437:, and either open vault surgery or strip craniectomy (if the child is under 6 months) can be performed. In the latter scenario, a helmet is worn for several months following surgery.
2420:
829:
Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LH, Stephens K, Amemiya A, Robin NH, Falk MJ, Haldeman-Englert CR (October 20, 1998). "FGFR-Related
Craniosynostosis Syndromes".
2339:
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147:
1804:
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1697:
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2120:
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Diagnosis of
Crouzon syndrome usually can occur at birth by assessing the physical appearance of the infant. Further analysis, including radiographs,
2086:
1871:
1090:
995:
601:
479:
2305:
1848:
1799:
296:(missing some teeth), and crowding of teeth. Due to maxillary hypoplasia, people with Crouzon syndrome generally have a considerable permanent
386:
region of the protein, leading to accelerated differentiation of frontal osteoblasts, resulting in premature fusion of frontal cranial bones.
2257:
2124:
2100:
2445:
2360:
2322:
1917:
1894:
1538:
2013:
1985:
1969:
929:
448:
Incidence of
Crouzon syndrome is currently estimated at 1.6 out of every 100,000 people. It is the most common craniostenosis syndrome.
101:
2526:
2095:
643:"Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate"
309:
734:
Fenwick AL, Goos JA, Rankin J, Lord H, Lester T, Hoogeboom AJ, van den
Ouweland AM, Wall SA, Mathijssen IM, Wilkie AO (August 2014).
515:
L. E. O. Crouzon. Dysostose cranio-faciale héréditaire. Bulletin de la Société des Médecins des Hôpitaux de Paris, 1912, 33: 545-555.
2432:
2208:
1768:
788:
Di Rocco F, Biosse Duplan M, Heuzé Y, Kaci N, Komla-Ebri D, Munnich A, Mugniery E, Benoist-Lasselin C, Legeai-Mallet L (June 2014).
2293:
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411:
1492:
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1211:
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265:(beak-like nose) are also very common features. Other facial characteristics that are present in many cases include external
2415:
2378:
533:
2344:
1327:
421:
is typically used to prevent the closure of sutures of the skull from damaging the brain's development. Without surgery,
1030:
280:
Most symptoms are secondary to the abnormal skull structure. Approximately 30% of people with
Crouzon syndrome develop
2457:
1497:
1216:
1046:
1034:
2332:
2006:
1994:
876:
92:, disturbances in their development create lasting and widespread effects. The syndrome is caused by a mutation in a
2395:
2178:
1729:
1528:
395:
378:
during embryonic development, guiding cranial bone development. A point mutation causes constitutive activation of
285:
1582:
2269:
1843:
1824:
1756:
1502:
474:
2138:
2186:
1948:
1889:
1437:
1080:
940:
328:
440:
Once treated for the cranial vault abnormalities, Crouzon patients generally go on to live a normal lifespan.
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2026:
1474:
1108:
1085:
426:
1938:
1932:
1772:
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321:
274:
146:
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People with
Crouzon syndrome tend to have multiple sutures involved, most specifically bilateral coronal
2399:
1792:
1720:
1377:
1042:
367:
332:
1820:
1751:
1592:
873:
on
Genetics Home Reference from U.S. National Library of Medicine & National Institutes of Health
654:
418:
355:
77:
69:
262:
2134:
2130:
1811:
1410:
1026:
918:
525:
270:
736:"Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome"
554:
Gray, Thomas L.; Casey, Theresa; Selva, Dinesh; Anderson, Peter J.; David, David J. (9 May 2005).
460:
in 1912. He noted the affected patients were a mother and her daughter, implying a genetic basis.
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1272:
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2149:
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1998:
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1974:
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52:
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1962:
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854:
Plastic
Surgery: Volume 3: Craniofacial, Head and Neck Surgery and Pediatric Plastic Surgery
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39:
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73:
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2018:
1990:
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735:
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642:
469:
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236:
228:
212:
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112:
85:
923:
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2054:
1816:
1689:
1543:
1487:
1454:
1337:
1158:
703:
375:
320:
as the leading factors in causing the autosomal dominant
Crouzon syndrome. These two
281:
258:
220:
208:
97:
870:
168:
159:
2373:
2300:
1783:
1625:
1518:
1360:
1332:
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1113:
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formed incorrectly due to the loss of cysteine 342. FGFR3 is expressed more in the
363:
250:
123:
980:
945:
571:
88:. Because the branchial arches are important developmental features in a growing
1548:
1315:
1306:
1191:
1123:
292:
Common features are a narrow/high-arched palate, posterior bilateral crossbite,
127:
983:
641:
Snyder-Warwick AK, Perlyn CA, Pan J, Yu K, Zhang L, Ornitz DM (February 2010).
499:
335:; mutations amongst these receptors are involved in several genetic disorders.
195:, which results in an abnormal head shape. This is present in combinations of:
183:
2071:
1523:
1459:
1372:
1366:
1342:
1310:
1277:
1246:
1196:
1168:
956:
908:
752:
325:
293:
266:
232:
135:
277:(protruding chin) and gives the effect of the patient having a concave face.
2288:
2276:
2252:
1630:
1575:
1382:
1267:
1260:
1241:
1173:
1137:
975:
667:
422:
383:
297:
254:
122:
who first described this disorder. First called "craniofacial dysostosis" ("
119:
838:
815:
771:
686:
579:
790:"FGFR3 mutation causes abnormal membranous ossification in achondroplasia"
2406:
2240:
2112:
1072:
1068:
1050:
806:
789:
414:
Abnormal fusion of the skull bones is characteristic of
Crouzon syndrome.
379:
343:
224:
877:
GeneReviews/NIH/NCBI/UW entry on FGFR-Related Craniosynostosis Syndromes
1640:
1298:
402:
and CT scans can be used to confirm the diagnosis of Crouzon syndrome.
351:
81:
891:
2452:
2158:
2116:
903:
257:
due to shallow eye sockets after early fusion of surrounding bones),
116:
89:
710:. US: US National Library of Medicine, National Institutes of Health
410:
177:
Boy with symptoms of Crouzon syndrome at age 2 (left) and 8 (right)
150:
Child with Crouzon syndrome showing characteristic facial features.
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2440:
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409:
317:
313:
182:
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2427:
2351:
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1957:
1912:
1183:
934:
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273:(insufficient growth of the midface), which results in relative
131:
93:
1693:
999:
324:
are two of four fibroblast growth factor receptors involved in
1616:
1146:
1059:
338:
There are 40 known mutations, most of which are caused by a
532:. US: Genetic and Rare Diseases Information Center (GARD),
342:. FGFR2 is the most commonly mutated gene, a missense at
358:
of exon 3 of the FGFR2 gene, uses exon 9 and is used in
2421:
Junctional epidermolysis bullosa with pyloric atresia
261:(greater than normal distance between the eyes), and
881:
80:(or pharyngeal) arch, which is the precursor of the
2388:
2315:
2230:
2177:
2148:
2085:
1947:
1931:
1904:
1881:
1858:
1743:
1728:
1663:
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1615:
1606:
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1511:
1473:
1445:
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1353:
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1225:
1182:
1145:
1136:
1099:
1067:
1058:
1041:
966:
885:
350:9, which creates a gain-of-function. The FGFR2lllc
51:
29:
24:
76:syndrome. Specifically, this syndrome affects the
191:A defining characteristic of Crouzon syndrome is
2060:Congenital insensitivity to pain with anhidrosis
783:
781:
2512:Congenital disorders of musculoskeletal system
729:
727:
725:
636:
634:
1705:
1011:
627:(6th ed.). Elsevier. pp. 2891–2914.
8:
1805:Gonadotropin-releasing hormone insensitivity
247:(premature closure of some or all sutures).
2221:Congenital amegakaryocytic thrombocytopenia
2306:Autoimmune lymphoproliferative syndrome 1A
1944:
1789:Follicle-stimulating hormone insensitivity
1740:
1712:
1698:
1690:
1612:
1442:
1433:
1294:
1142:
1064:
1055:
1018:
1004:
996:
882:
38:
21:
2470:X-linked severe combined immunodeficiency
2246:TNF receptor associated periodic syndrome
805:
761:
751:
676:
666:
556:"Ophthalmic Sequelae of Crouzon Syndrome"
2507:Hearing loss with craniofacial syndromes
602:National Organization for Rare Disorders
480:Hearing loss with craniofacial syndromes
456:Crouzon syndrome was first described by
2258:Selective immunoglobulin A deficiency 2
1849:Aspirin-exacerbated respiratory disease
491:
382:in the activation loop, located in the
100:that controls the body's production of
2433:EDAR hypohidrotic ectodermal dysplasia
2361:Familial exudative vitreoretinopathy 4
1918:Familial exudative vitreoretinopathy 1
16:Genetic disorder of the skull and face
2125:Hereditary hemorrhagic telangiectasia
2101:Persistent MĂĽllerian duct syndrome II
1872:Jansen's metaphyseal chondrodysplasia
698:
696:
7:
2446:Nevoid basal-cell carcinoma syndrome
1895:Familial hypocalciuric hypercalcemia
1539:Greig cephalopolysyndactyly syndrome
2209:Surfactant metabolism dysfunction 4
102:fibroblast growth factor receptor 2
2517:Cell surface receptor deficiencies
2458:BMPR1A juvenile polyposis syndrome
2379:LDLR Familial hypercholesterolemia
1029:malformations and deformations of
310:fibroblast growth factor receptors
14:
1769:Luteinizing hormone insensitivity
223:(unilateral premature closure of
1837:Nephrogenic diabetes insipidus 1
370:the transmembrane protein via a
211:(fusion of the coronal suture),
167:
158:
1777:Male-limited precocious puberty
1212:Congenital patellar dislocation
1091:Wallis–Zieff–Goldblatt syndrome
308:The current research indicates
2164:Leber's congenital amaurosis 1
2076:Gastrointestinal stromal tumor
111:Crouzon syndrome is named for
1:
534:National Institutes of Health
718:– via ghr.nlm.nih.gov.
647:Proc. Natl. Acad. Sci. U.S.A
572:10.1016/j.ophtha.2004.12.037
72:genetic disorder known as a
1757:Congenital hypothyroidism 1
1498:Oto-palato-digital syndrome
1493:Hallermann–Streiff syndrome
1217:Congenital knee dislocation
1035:musculoskeletal abnormality
852:Rodriguez, Eduardo (2018).
2543:
2416:Glanzmann's thrombasthenia
2396:Immunoglobulin superfamily
2048:Rabson–Mendenhall syndrome
1730:G protein-coupled receptor
1529:Craniodiaphyseal dysplasia
396:magnetic resonance imaging
286:Sensorineural hearing loss
47:Baby with Crouzon syndrome
2527:Congenital oral disorders
2270:Hyper-IgM syndrome type 3
1503:Treacher Collins syndrome
1354:reduction deficits / limb
753:10.1186/s12881-014-0095-4
530:rarediseases.info.nih.gov
475:Treacher Collins syndrome
46:
37:
2345:Cenani–Lenz syndactylism
2187:Type I cytokine receptor
1825:Hirschsprung's disease 2
1328:Cenani–Lenz syndactylism
1081:Cleidocranial dysostosis
368:constitutively activates
366:. However, the mutation
2027:Thanatophoric dysplasia
1821:Waardenburg syndrome 4a
1475:Craniofacial dysostosis
856:(4 ed.). Elsevier.
708:Genetics Home Reference
668:10.1073/pnas.0913985107
625:Cummings Otolaryngology
427:intellectual disability
2481:cell surface receptors
2333:Donnai–Barrow syndrome
2007:Jackson–Weiss syndrome
1995:Antley–Bixler syndrome
1979:KAL2 Kallmann syndrome
1933:Enzyme-linked receptor
1773:Leydig cell hypoplasia
1031:musculoskeletal system
415:
360:mesenchymal stem cells
322:transmembrane proteins
275:mandibular prognathism
188:
151:
33:Brachial arch syndrome
1793:XX gonadal dysgenesis
1721:Cell surface receptor
1583:Klippel–Feil syndrome
413:
333:embryonic development
186:
149:
2139:Loeys–Dietz syndrome
1593:Spina bifida occulta
1109:Madelung's deformity
1086:Sprengel's deformity
623:Flint, Paul (2015).
356:alternative splicing
1411:RAPADILINO syndrome
659:2010PNAS..107.2515S
271:hypoplastic maxilla
2109:TGF beta receptors
1273:Rocker bottom foot
967:External resources
807:10.1093/hmg/ddu004
704:"Crouzon syndrome"
594:"Crouzon Syndrome"
526:"Crouzon syndrome"
416:
241:lambdoidal sutures
189:
152:
142:Signs and symptoms
70:autosomal dominant
2489:
2488:
2173:
2172:
2023:Hypochondroplasia
1999:Pfeiffer syndrome
1975:Pfeiffer syndrome
1927:
1926:
1687:
1686:
1683:
1682:
1679:
1678:
1608:Thoracic skeleton
1588:Spondylolisthesis
1557:
1556:
1423:
1422:
1419:
1418:
1286:
1285:
1132:
1131:
993:
992:
340:missense mutation
63:
62:
19:Medical condition
2534:
2043:Donohue syndrome
2003:Crouzon syndrome
1963:Robinow syndrome
1945:
1741:
1714:
1707:
1700:
1691:
1655:Pectus carinatum
1650:Pectus excavatum
1613:
1571:Spinal curvature
1563:Vertebral column
1483:Crouzon syndrome
1447:Craniosynostosis
1443:
1434:
1299:fingers and toes
1295:
1207:Discoid meniscus
1164:Upington disease
1143:
1065:
1056:
1020:
1013:
1006:
997:
883:
871:Crouzon syndrome
858:
857:
849:
843:
842:
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629:
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598:rarediseases.org
590:
584:
583:
566:(6): 1129–1134.
551:
545:
544:
542:
540:
522:
516:
513:
507:
496:
435:craniosynostoses
245:craniosynostosis
193:craniosynostosis
171:
162:
126:" refers to the
66:Crouzon syndrome
58:Medical genetics
42:
25:Crouzon syndrome
22:
2542:
2541:
2537:
2536:
2535:
2533:
2532:
2531:
2492:
2491:
2490:
2485:
2389:Other/ungrouped
2384:
2365:Osteopetrosis 1
2311:
2226:
2169:
2144:
2081:
2031:Muenke syndrome
1937:
1935:
1923:
1900:
1877:
1854:
1732:
1724:
1718:
1688:
1675:
1671:Poland syndrome
1659:
1635:
1602:
1553:
1507:
1469:
1415:
1406:Larsen syndrome
1394:multiple joints
1389:
1349:
1282:
1221:
1202:Genu recurvatum
1178:
1155:Hip dislocation
1128:
1095:
1045:
1037:
1024:
994:
989:
988:
962:
961:
894:
867:
862:
861:
851:
850:
846:
828:
827:
823:
800:(11): 2914–25.
794:Hum. Mol. Genet
787:
786:
779:
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497:
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466:
454:
446:
408:
400:genetic testing
392:
329:differentiation
306:
243:), and complex
229:coronal sutures
217:sagittal suture
215:(fusion of the
203:(fusion of the
197:frontal bossing
187:Cranial sutures
181:
180:
179:
178:
174:
173:
172:
164:
163:
144:
78:first branchial
20:
17:
12:
11:
5:
2540:
2538:
2530:
2529:
2524:
2522:Rare syndromes
2519:
2514:
2509:
2504:
2502:Genodermatoses
2494:
2493:
2487:
2486:
2484:
2483:
2478:
2474:
2473:
2461:
2449:
2424:
2423:
2418:
2413:
2403:
2402:
2392:
2390:
2386:
2385:
2383:
2382:
2369:
2368:
2357:Worth syndrome
2348:
2336:
2319:
2317:
2316:Lipid receptor
2313:
2312:
2310:
2309:
2297:
2285:
2273:
2261:
2249:
2236:
2234:
2228:
2227:
2225:
2224:
2213:
2212:
2200:
2197:Laron syndrome
2183:
2181:
2175:
2174:
2171:
2170:
2168:
2167:
2154:
2152:
2146:
2145:
2143:
2142:
2128:
2105:
2104:
2091:
2089:
2083:
2082:
2080:
2079:
2072:KIT Piebaldism
2063:
2051:
2045:
2034:
2019:Achondroplasia
2010:
1991:Apert syndrome
1982:
1966:
1953:
1951:
1942:
1929:
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1922:
1921:
1908:
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1902:
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1840:
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1808:
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1709:
1702:
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1565:
1559:
1558:
1555:
1554:
1552:
1551:
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1541:
1536:
1534:Dolichocephaly
1531:
1526:
1521:
1515:
1513:
1509:
1508:
1506:
1505:
1500:
1495:
1490:
1485:
1479:
1477:
1471:
1470:
1468:
1467:
1465:Trigonocephaly
1462:
1457:
1451:
1449:
1440:
1438:Skull and face
1431:
1425:
1424:
1421:
1420:
1417:
1416:
1414:
1413:
1408:
1403:
1401:Arthrogryposis
1397:
1395:
1391:
1390:
1388:
1387:
1386:
1385:
1380:
1375:
1363:
1357:
1355:
1351:
1350:
1348:
1347:
1346:
1345:
1335:
1330:
1325:
1323:Arachnodactyly
1320:
1319:
1318:
1303:
1301:
1292:
1288:
1287:
1284:
1283:
1281:
1280:
1275:
1270:
1265:
1264:
1263:
1251:
1250:
1249:
1244:
1231:
1229:
1227:foot deformity
1223:
1222:
1220:
1219:
1214:
1209:
1204:
1199:
1194:
1188:
1186:
1180:
1179:
1177:
1176:
1171:
1166:
1161:
1151:
1149:
1140:
1134:
1133:
1130:
1129:
1127:
1126:
1121:
1116:
1111:
1105:
1103:
1101:hand deformity
1097:
1096:
1094:
1093:
1088:
1083:
1077:
1075:
1062:
1053:
1039:
1038:
1025:
1023:
1022:
1015:
1008:
1000:
991:
990:
987:
986:
971:
970:
968:
964:
963:
960:
959:
948:
937:
926:
911:
895:
890:
889:
887:
886:Classification
880:
879:
874:
866:
865:External links
863:
860:
859:
844:
821:
777:
740:BMC Med. Genet
721:
692:
653:(6): 2515–20.
630:
615:
585:
546:
517:
508:
490:
489:
487:
484:
483:
482:
477:
472:
470:Apert syndrome
465:
462:
458:Octave Crouzon
453:
450:
445:
442:
407:
404:
391:
388:
372:disulfide bond
354:, created via
305:
302:
263:psittichorhina
213:dolichocephaly
205:metopic suture
201:trigonocephaly
176:
175:
166:
165:
157:
156:
155:
154:
153:
143:
140:
113:Octave Crouzon
74:branchial arch
61:
60:
55:
49:
48:
44:
43:
35:
34:
31:
27:
26:
18:
15:
13:
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2279:
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2255:
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2247:
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2238:
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2222:
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2176:
2165:
2161:
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2155:
2153:
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2147:
2140:
2136:
2132:
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2126:
2122:
2118:
2114:
2110:
2107:
2106:
2102:
2098:
2097:
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2092:
2090:
2088:
2084:
2077:
2073:
2069:
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2064:
2061:
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2028:
2024:
2020:
2016:
2015:
2011:
2008:
2004:
2000:
1996:
1992:
1988:
1987:
1983:
1980:
1976:
1972:
1971:
1967:
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1960:
1959:
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1954:
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1950:
1946:
1943:
1940:
1939:growth factor
1934:
1930:
1919:
1915:
1914:
1910:
1909:
1907:
1903:
1896:
1892:
1891:
1887:
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1873:
1869:
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1864:
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1861:
1857:
1850:
1846:
1845:
1841:
1838:
1834:
1833:
1829:
1826:
1822:
1818:
1817:ABCD syndrome
1814:
1813:
1809:
1806:
1802:
1801:
1797:
1794:
1790:
1786:
1785:
1781:
1778:
1774:
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1766:
1765:
1761:
1758:
1754:
1753:
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1599:
1598:Sacralization
1596:
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1577:
1574:
1573:
1572:
1569:
1568:
1566:
1564:
1560:
1550:
1547:
1545:
1544:Plagiocephaly
1542:
1540:
1537:
1535:
1532:
1530:
1527:
1525:
1522:
1520:
1517:
1516:
1514:
1510:
1504:
1501:
1499:
1496:
1494:
1491:
1489:
1488:Hypertelorism
1486:
1484:
1481:
1480:
1478:
1476:
1472:
1466:
1463:
1461:
1458:
1456:
1455:Scaphocephaly
1453:
1452:
1450:
1448:
1444:
1441:
1439:
1435:
1432:
1430:
1426:
1412:
1409:
1407:
1404:
1402:
1399:
1398:
1396:
1392:
1384:
1381:
1379:
1376:
1374:
1371:
1370:
1369:
1368:
1364:
1362:
1359:
1358:
1356:
1352:
1344:
1341:
1340:
1339:
1338:Brachydactyly
1336:
1334:
1331:
1329:
1326:
1324:
1321:
1317:
1314:
1313:
1312:
1308:
1305:
1304:
1302:
1300:
1296:
1293:
1291:Either / both
1289:
1279:
1276:
1274:
1271:
1269:
1266:
1262:
1259:
1258:
1257:
1256:
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1200:
1198:
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1193:
1190:
1189:
1187:
1185:
1181:
1175:
1172:
1170:
1167:
1165:
1162:
1160:
1159:Hip dysplasia
1156:
1153:
1152:
1150:
1148:
1144:
1141:
1139:
1135:
1125:
1122:
1120:
1117:
1115:
1112:
1110:
1107:
1106:
1104:
1102:
1098:
1092:
1089:
1087:
1084:
1082:
1079:
1078:
1076:
1074:
1070:
1066:
1063:
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1054:
1052:
1048:
1044:
1040:
1036:
1032:
1028:
1021:
1016:
1014:
1009:
1007:
1002:
1001:
998:
985:
982:
978:
977:
973:
972:
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965:
958:
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953:
949:
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942:
938:
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932:
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927:
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921:
920:
916:
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905:
901:
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893:
888:
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875:
872:
869:
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855:
848:
845:
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836:
832:
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822:
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813:
808:
803:
799:
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791:
784:
782:
778:
773:
769:
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749:
745:
741:
737:
730:
728:
726:
722:
709:
705:
699:
697:
693:
688:
684:
679:
674:
669:
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637:
635:
631:
626:
619:
616:
603:
599:
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589:
586:
581:
577:
573:
569:
565:
561:
560:Ophthalmology
557:
550:
547:
535:
531:
527:
521:
518:
512:
509:
506:
505:Who Named It?
502:
501:
495:
492:
485:
481:
478:
476:
473:
471:
468:
467:
463:
461:
459:
451:
449:
443:
441:
438:
436:
431:
428:
424:
420:
412:
405:
403:
401:
398:(MRI) scans,
397:
389:
387:
385:
381:
377:
376:frontal bones
373:
369:
365:
361:
357:
353:
349:
345:
341:
336:
334:
330:
327:
323:
319:
315:
311:
303:
301:
299:
295:
290:
287:
283:
282:hydrocephalus
278:
276:
272:
268:
264:
260:
259:hypertelorism
256:
252:
248:
246:
242:
238:
234:
230:
226:
222:
221:plagiocephaly
218:
214:
210:
209:brachycephaly
206:
202:
198:
194:
185:
170:
161:
148:
141:
139:
137:
133:
129:
125:
121:
118:
114:
109:
107:
103:
99:
98:chromosome 10
95:
91:
87:
83:
79:
75:
71:
67:
59:
56:
54:
50:
45:
41:
36:
32:
28:
23:
2463:
2451:
2439:
2426:
2425:
2372:
2350:
2338:
2326:
2299:
2287:
2275:
2263:
2251:
2239:
2232:TNF receptor
2202:
2190:
2157:
2094:
2065:
2053:
2036:
2012:
2002:
1984:
1968:
1956:
1911:
1888:
1865:
1842:
1830:
1810:
1798:
1782:
1762:
1750:
1723:deficiencies
1519:Macrocephaly
1482:
1365:
1361:Acheiropodia
1333:Ectrodactyly
1253:
1234:
1119:Oligodactyly
1114:Clinodactyly
1043:Appendicular
974:
950:
939:
928:
913:
898:
853:
847:
830:
824:
797:
793:
743:
739:
712:. Retrieved
707:
650:
646:
624:
618:
606:. Retrieved
597:
588:
563:
559:
549:
537:. Retrieved
529:
520:
511:
498:
494:
455:
447:
444:Epidemiology
439:
432:
417:
393:
364:ossification
337:
307:
291:
279:
251:Exophthalmos
249:
190:
124:craniofacial
110:
105:
65:
64:
1733:(including
1549:Saddle nose
1316:Webbed toes
1307:Polydactyly
1192:Genu valgum
1124:Polydactyly
831:GeneReviews
714:21 November
608:21 November
539:21 November
362:to control
289:breathing.
235:(fusion of
30:Other names
2496:Categories
1936:(including
1524:Platybasia
1460:Oxycephaly
1373:Phocomelia
1367:Ectromelia
1343:Stub thumb
1311:Syndactyly
1278:Hammer toe
1247:Pigeon toe
1197:Genu varum
1169:Coxa valga
1027:Congenital
952:DiseasesDB
486:References
326:osteoblast
294:hypodontia
267:strabismus
233:oxycephaly
136:dysostosis
2289:TNFRSF13B
2277:TNFRSF13C
2253:TNFRSF13B
1576:Scoliosis
1383:Hemimelia
1268:Pes cavus
1261:Flat feet
1242:Club foot
1174:Coxa vara
976:eMedicine
500:synd/1383
423:blindness
406:Treatment
390:Diagnosis
384:cytosolic
298:underbite
253:(bulging
120:physician
53:Specialty
2477:See also
2407:Integrin
2241:TNFRSF1A
2179:JAK-STAT
2113:Endoglin
1626:Cervical
1073:shoulder
1069:clavicle
1051:dysmelia
984:derm/734
839:20301628
816:24419316
772:25174698
687:20133659
580:15885794
464:See also
380:tyrosine
344:cysteine
225:lambdoid
86:mandible
2400:AGM3, 6
2301:TNFRSF6
2265:TNFRSF5
1905:Class F
1882:Class C
1859:Class B
1744:Class A
1735:hormone
1641:sternum
981:ped/511
946:D003394
763:4236556
678:2823872
655:Bibcode
452:History
419:Surgery
352:isoform
346:342 in
331:during
312:(FGFR)
237:coronal
134:, and "
82:maxilla
2453:BMPR1A
2204:CSF2RA
2159:GUCY2D
2135:TGFBR2
2131:TGFBR1
1844:PTGER2
1664:other:
1378:Amelia
1255:valgus
935:123500
837:
814:
770:
760:
746:: 95.
685:
675:
604:(NORD)
578:
304:Causes
117:French
90:embryo
68:is an
2465:IL2RG
2441:PTCH1
2294:CVID2
2282:CVID4
2121:SMAD4
2117:Alk-1
2096:AMHR2
2055:NTRK1
2014:FGFR3
1986:FGFR2
1970:FGFR1
1867:PTH1R
1832:AVPR2
1812:EDNRB
1800:GnRHR
1764:LHCGR
1631:Bifid
1512:other
1429:Axial
1236:varus
924:756.0
909:Q75.1
318:FGFR3
314:FGFR2
128:skull
106:FGFR2
2428:EDAR
2411:LAD1
2374:LDLR
2352:LRP5
2340:LRP4
2328:LRP2
2087:STPK
2038:INSR
1958:ROR2
1913:FZD4
1890:CASR
1784:FSHR
1752:TSHR
1617:ribs
1184:knee
1060:Arms
1047:limb
957:3203
941:MeSH
930:OMIM
919:9-CM
835:PMID
812:PMID
768:PMID
716:2018
683:PMID
610:2018
576:PMID
541:2018
425:and
348:exon
316:and
269:and
255:eyes
239:and
227:and
132:face
130:and
115:, a
94:gene
84:and
2323:LRP
2217:MPL
2067:KIT
1949:RTK
1147:hip
1138:Leg
915:ICD
900:ICD
802:doi
758:PMC
748:doi
673:PMC
663:doi
651:107
568:doi
564:112
503:at
231:),
219:),
207:),
108:).
96:on
2498::
2435:)
2409::
2398::
2363:,
2359:,
2325::
2192:GH
2189::
2150:GC
2111::
2074:,
2029:,
2025:,
2021:,
2005:,
2001:,
1997:,
1993:,
1977:,
1823:,
1819:,
1791:,
1775:,
1771:,
1309:/
1157:/
1071:/
1049:/
1033:/
979::
955::
944::
933::
922::
907::
904:10
833:.
810:.
798:23
796:.
792:.
780:^
766:.
756:.
744:15
742:.
738:.
724:^
706:.
695:^
681:.
671:.
661:.
649:.
645:.
633:^
600:.
596:.
574:.
562:.
558:.
528:.
300:.
284:.
199:,
2472:)
2468:(
2460:)
2456:(
2448:)
2444:(
2431:(
2381:)
2377:(
2367:)
2355:(
2347:)
2343:(
2335:)
2331:(
2308:)
2304:(
2296:)
2292:(
2284:)
2280:(
2272:)
2268:(
2260:)
2256:(
2248:)
2244:(
2223:)
2219:(
2211:)
2207:(
2199:)
2195:(
2166:)
2162:(
2141:)
2137:(
2133:/
2127:)
2123:(
2119:/
2115:/
2103:)
2099:(
2078:)
2070:(
2062:)
2058:(
2050:)
2041:(
2033:)
2017:(
2009:)
1989:(
1981:)
1973:(
1965:)
1961:(
1941:)
1920:)
1916:(
1897:)
1893:(
1874:)
1870:(
1851:)
1847:(
1839:)
1835:(
1827:)
1815:(
1807:)
1803:(
1795:)
1787:(
1779:)
1767:(
1759:)
1755:(
1737:)
1713:e
1706:t
1699:v
1643::
1619::
1019:e
1012:t
1005:v
917:-
902:-
892:D
841:.
818:.
804::
774:.
750::
689:.
665::
657::
612:.
582:.
570::
543:.
104:(
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