451:
400:
42:
258:
Despite the current major efforts of surgical therapeutics on the effects of
Acrocephalosyndactyly, morbidities still exist within individuals that have received treatment. Those who reach adulthood often have lower levels of education than their peers, as well as greater difficulty in various social
357:
There is no consistent nomenclature or classification across the different syndromes under the umbrella of acrocephalosyndactyly and acrocephalopolysyndactyly. Although acrocephalosyndactyly has been reported as early as the 18th century, the ACS and ACPS classifications only came in the latter 20th
98:
is also present, the classification is acrocephalopolysyndactyly. Polydactyly occurs when the hands or feet possess additional digits. Acrocephalosyndactyly is usually diagnosed after birth, although prenatal diagnosis is sometimes possible if the genetic variation is present in family members, as
1618:
Jenkins, Dagan; Seelow, Dominik; Jehee, Fernanda S.; Perlyn, Chad A.; Alonso, LuĂs G.; Bueno, Daniela F.; Donnai, Dian; Josifiova, Dragana; Mathijssen, Irene M. J.; Morton, Jenny E. V.; Ărstavik, Karen Helene; Sweeney, Elizabeth; Wall, Steven A.; Marsh, Jeffrey L.; NĂŒrnberg, Peter (1 June 2007).
544:, surgical correction of syndactyly may be needed. Surgery is recommended to be performed as soon as possible, generally at 4 months of age. Treatment is dependent on the severity of syndactyly. The surgical treatment generally involves interdigital webspace release and thumb lengthening.
525:
should be performed in the first year of life to prevent disruptions in brain growth due to increased intracranial pressure. Midface surgery may also be required in childhood to detach the midface from the rest of the skull to correct respiratory and orthodontic problems.
171:
Acrocephalosyndactyly presents in numerous different subtypes, however, considerable overlap in symptoms occurs. Generally, all forms of acrocephalosyndactyly are characterized by atypical craniofacial, hand, and foot characteristics, such as premature closure of the
1200:
Wilkie, Andrew O. M.; Slaney, Sarah F.; Oldridge, Michael; Poole, Michael D.; Ashworth, Geraldine J.; Hockley, Anthony D.; Hayward, Richard D.; David, David J.; Pulleyn, Louise J.; Rutland, Paul; Malcolm, Susan; Winter, Robin M.; Reardon, William (February 1995).
1562:
Cai, Juanliang; Goodman, Barbara K.; Patel, Ankita S.; Mulliken, John B.; Van
Maldergem, Lionel; Hoganson, George E.; Paznekas, William A.; Ben-Neriah, Ziva; Sheffer, Ruth; Cunningham, Michael L.; Daentl, Donna L.; Jabs, Ethylin Wang (1 December 2003).
250:, meaning that all individuals who inherit the condition present atypical characteristic craniofacial, hand, and foot structures, but the severity of disabilities is variable. Increased paternal age is considered a risk factor in some cases.
294:
is only possible if the gene variation responsible for the syndrome is known and the variation causing the disease has been identified within the genome of a family member. Collection of samples for genetic testing can be done using
162:
Considering all types of acrocephalosyndactyly, one newborn baby is born with acrocephalosyndactyly for every 65,000 - 102,500 babies born. There is no difference in the amount of males and females affected by acrocephalosyndactyly.
552:
Treatment for those diagnosed with acrocephalosyndactyly extends beyond surgery. There are many steps that can aid in long-term management of the syndrome. Individuals afflicted with acrocephalosyndactyly and their
2445:
2430:
2415:
207:, or genetic alterations not inherited from one's parents, in different genes were reported to cause several types of acrocephalosyndactyly. Among known genetic changes, there are variations in genes such as
2021:
Wilson, Alexander T.; de
Planque, Catherine A.; Yang, Sumin S.; Tasker, Robert C.; van Veelen, Marie-Lise C.; Dremmen, Marjolein H. G.; Vrooman, Henri A.; Mathijssen, Irene M. J. (October 2020).
573:, and accommodating educational institutions. Primary caregivers are encouraged to prioritize their emotional health by reserving time for themselves and by sourcing a reliable support system.
90:
allow the skull bones to continue growing until they fuse at age 24. Premature fusing of the cranial sutures can result in alterations to the skull shape and interfere with brain growth.
1259:
Carinci, Francesco; Pezzetti, Furio; Locci, Paola; Becchetti, Ennio; Carls, Friedrick; Avantaggiato, Anna; Becchetti, Alessio; Carinci, Paolo; Baroni, Tiziano; Bodo, Maria (May 2005).
358:
century. However, this classification may be outdated as it has been suggested that the distinction between acrocephalosyndactyly and acrocephalopolysyndactyly should be erased.
1676:
Yamaji, Kojiro; Morita, Jumpei; Watanabe, Tsukasa; Gunjigake, Kaori; Nakatomi, Mitsushiro; Shiga, Momotoshi; Ono, Kentaro; Moriyama, Keiji; Kawamoto, Tatsuo (November 2018).
557:
can build a health care support system by building strong relationships with a team of medical specialists. Preformed teams of medical specialists can often be found at
2523:
176:
in between certain bones of the skull, fusion of certain fingers or toes, and/or more than the usual number of digits. Some subtypes also involve structural
1162:
Gallagher, Emily R.; Ratisoontorn, Chootima; Cunningham, Michael L. (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.),
2338:
1260:
1565:"Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening"
1901:"Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation: Letter to the Editor"
2516:
270:
Fortunately, many individual with the condition report similar levels of happiness with their lives as non-afflicted individuals and show high
1899:
Gonzales, M.; Heuertz, S.; Martinovic, J.; Delahaye, S.; Bazin, A.; Loget, P.; Pasquier, L.; Le Merrer, M.; Bonaventure, J. (17 June 2005).
450:
1338:"Acrocephalopolysyndactyly type IIâCarpenter syndrome: Clinical spectrum and an attempt at unification with Goodman and Summit syndromes"
1336:
Cohen, Donald M.; Green, James G.; Miller, Janice; Gorlin, Robert J.; Reed, Jerry A.; Opitz, John M.; Reynolds, James F. (October 1987).
323:
Most diagnoses of acrocephalosyndactyly occur after birth by assessing the physical symptoms of the infant. This can be supported with
2772:
2509:
1447:"Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras"
1006:
Wheaton, S. W. (1894). "Two specimens of congenital cranial deformity in infants associated with fusion of the fingers and toes".
1621:"RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity"
122:
Cases of the condition have been recorded as early as the 18th century. The term acrocephalosyndactyly (from Greek áŒÎșÏÎżÏ (
2579:
693:
676:
399:
114:
The severity of symptoms for acrocephalosyndactyly varies significantly by subtype and treatment in the early stages of life.
2574:
1999:
494:
86:
occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development.
154:
subtype of acrocephalosyndactyly. Other subtypes of acrocephalosyndactyly were characterized throughout the 20th century.
388:
type II. Pfeiffer syndrome was formerly type VI and
Waardenburg type V, but this was changed sometime after 1966.
311:
inserted into the uterus from the abdomen. Alternatively, there has been interest in using non-invasive techniques like
2674:
247:
907:
333:
208:
2787:
2712:
2812:
1736:
TovetjÀrn, Robert; Tarnow, Peter; Maltese, Giovanni; Fischer, Sara; Sahlin, Per-Erik; Kölby, Lars (October 2012).
2777:
521:). The cranial suture located between the two frontal and two parietal skull bones is called the coronal suture.
2874:
331:, which looks for DNA variations known to cause the disease. Molecular genetic testing typically occurs in the
2722:
1874:
948:
Raposo-Amaral, Cassio
Eduardo; Denadai, Rafael; Furlan, Pedro; Raposo-Amaral, Cesar Augusto (October 2018).
2782:
2679:
2569:
423:
2111:
Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes
2023:"Cortical Thickness in Crouzon-Pfeiffer Syndrome: Findings in Relation to Primary Cranial Vault Expansion"
2902:
2694:
2664:
2489:
384:
Acrocephalosyndactyly type IV was formerly called Mohr
Syndrome, however, it was later classified under
2838:
2737:
2644:
2634:
2589:
1900:
931:
303:, which samples placental cells. There has been a case of a prenatal diagnosis of Apert syndrome using
621:
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2717:
537:
in certain subtypes is rarely severe enough to affect hand function, so treatment may not be needed.
300:
1791:
Taghinia, Amir H.; Yorlets, Rachel R.; Doyle, Michael; Labow, Brian I.; Upton, Joseph (April 2019).
1315:
2792:
2629:
2541:
2460:
2391:
385:
2387:
1139:
517:, surgery is required to prevent premature fusion of cranial sutures, such as the coronal suture (
231:
R, which is heavily involved during the development stage of embryos such as organ development or
2978:
2702:
582:
339:
216:
464:(ACPS), refers to the inclusion of polydactyly to the presentation. It also has multiple types:
2983:
2707:
2532:
1203:"Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome"
2424:
1516:
1337:
793:
259:
aspects, such as dating, marriage, or sexual relationships. They may also report the need for
2941:
2929:
2913:
2885:
2609:
902:. M. Michael Cohen, Ruth E. MacLean (2nd ed.). New York: Oxford University Press. 2000.
2359:
2897:
2881:
2869:
2857:
1875:"Apert syndrome - Diagnosis & Treatment - Genetic and Rare Diseases Information Center"
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8:
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2055:
2022:
1928:
1828:
1773:
1738:"Children with Apert Syndrome as Adults: A Follow-Up Study of 28 Scandinavian Patients"
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54:
1832:
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1777:
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1719:
1604:
1515:
Leonard, Claire O.; Daikoku, Norman H.; Winn, Kevin; Opitz, John M. (January 1982).
1300:
1242:
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688:
620:
Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006),
570:
514:
428:
Robinow-Sorauf syndrome suggested to be included in
Saethre-Chotzen classification
417:
374:
287:
143:
104:
83:
75:
59:
188:
Most forms of acrocephalosyndactyly or acrocephalopolysyndactyly are inherited in
2934:
2918:
2906:
2890:
2817:
2684:
2669:
2654:
2465:
2038:
1979:
1808:
1753:
1388:"Anesthetic management of craniosynostosis repair in patient with Apert syndrome"
965:
328:
291:
260:
242:
Genetically inherited acrocephalosyndactyly conditions all show high to complete
236:
1445:
Galvin, B D; Hart, K C; Meyer, A N; Webster, M K; Donoghue, D J (23 July 1996).
1261:"Apert and Crouzon Syndromes: Clinical Findings, Genes and Extracellular Matrix"
263:
throughout their life as well as other health issues, such as hearing issues or
139:
2955:
2807:
2554:
1106:
1073:
643:
541:
411:
370:
151:
87:
2439:
1678:"Maldevelopment of the submandibular gland in a mouse model of apert syndrome"
1580:
950:"Treatment of Apert Hand Syndrome: Strategies for Achieving a Five-Digit Hand"
365:(ACS type V); Goodman syndrome (ACPS type IV) is classified as a variation of
2972:
2621:
2199:
2046:
1846:
1816:
1793:"Long-Term Functional Upper-Extremity Outcomes in Adults with Apert Syndrome"
1761:
1703:
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1413:
1404:
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1226:
1202:
1163:
973:
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757:
702:
518:
296:
232:
173:
1564:
1532:
1471:
1353:
917:
809:
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as well as great physical and emotional resilience despite any impediments.
103:
pattern
Treatment often involves surgery in early childhood to correct for
2727:
2064:
1924:
1824:
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1662:
1596:
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71:
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1953:
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1498:
1369:
1234:
825:
41:
2747:
2191:
897:
749:
324:
95:
2407:
1847:"The encyclopedia of genetic disorders and birth defects | WorldCat.org"
381:(ASC type V) syndrome into Apert-Crouzon and Crouzon-Pfeiffer syndrome.
2742:
1694:
1677:
1218:
947:
587:
558:
534:
243:
147:
108:
91:
79:
1386:
Kumar, Niraj; Arora, Shubhangi; Bindra, Ashish; Goyal, Keshav (2014).
1105:
Conrady, Christopher D.; Patel, Bhupendra C.; Sharma, Sandeep (2023),
856:
694:
10.1002/1097-0177(2000)9999:9999<::AID-DVDY1073>3.0.CO;2-F
299:, which samples embryonic stem cells contained in amniotic fluid, or
227:. Constitutive activation in these categories of genes, particularly
554:
308:
304:
619:
565:. Caregivers can prevent future challenges by exploring options for
2731:
2594:
2484:
1636:
264:
1869:
1867:
442:
Noack syndrome incorporated into
Pfeiffer syndrome classification
1898:
1314:
Bissonnette, Bruno; Luginbuehl, Igor; Engelhardt, Thomas (2019),
566:
94:
occurs when digits of the hands or feet are fused together. When
2309:
2284:
2259:
2231:
2149:
2124:
2081:
1047:
2434:
2419:
2345:
1864:
1313:
1161:
1984:
Encyclopedia of
Genetics, Genomics, Proteomics and Informatics
892:
890:
290:
is possible for some forms of acrocephalosyndactyly. Prenatal
1735:
1675:
1258:
899:
Craniosynostosis : diagnosis, evaluation, and management
734:"Syndactyly: phenotypes, genetics and current classification"
361:
Currently, Noack syndrome (ACPS type I) is now classified as
345:
223:
177:
1320:
Syndromes: Rapid Recognition and Perioperative Implications
887:
626:
Syndromes: Rapid Recognition and Perioperative Implications
74:
characterized by irregular features of the face and skull (
2020:
2109:
McKusick, V. A. (1966). "Autosomal Dominant Phenotypes".
1790:
1199:
2254:
2252:
2150:"Entry - #101400 - SAETHRE-CHOTZEN SYNDROME; SCS - OMIM"
2076:
2074:
1948:
1946:
1944:
1942:
1617:
1042:
1040:
369:(ACPS type II); and different researchers have combined
138:'finger') was first applied in 1906 by French physician
1561:
1514:
150:. The condition described by Apert is now known as the
1444:
1335:
841:"Polydactyly: phenotypes, genetics and classification"
677:"Cranial sutures as intramembranous bone growth sites"
235:
and the maintenance of tissue forming cells, known as
2332:
2330:
2302:
2277:
2249:
2224:
2142:
2117:
2071:
1939:
1517:"Prenatal fetoscopic diagnosis of the Apert syndrome"
1385:
1316:"Acrocephalopolysyndactyly Type IV: Goodman Syndrome"
1037:
2531:
2397:
1025:
Apert, M. E. (1906). "De l'acrocephalosyndactylie".
267:
at a more common frequency than their counterparts.
2310:"Entry 101120 - Acrocephalopolysyndactyly type III"
1170:, Seattle (WA): University of Washington, Seattle,
2327:
2260:"Entry 201020 - Acrocephalopolysyndactyly type IV"
1104:
615:
613:
611:
609:
607:
605:
603:
1322:(2 ed.), New York, NY: McGraw-Hill Education
2970:
2104:
2102:
1986:, Dordrecht: Springer Netherlands, p. 127,
1307:
253:
2364:NORD (National Organization for Rare Disorders)
2027:Plastic and Reconstructive Surgery. Global Open
1731:
1729:
1451:Proceedings of the National Academy of Sciences
1381:
1379:
1254:
1252:
1157:
1155:
1153:
1113:, Treasure Island (FL): StatPearls Publishing,
1080:, Treasure Island (FL): StatPearls Publishing,
650:, Treasure Island (FL): StatPearls Publishing,
600:
142:first to describe a condition characterized by
1510:
1508:
1331:
1329:
1195:
1193:
1191:
1001:
999:
943:
941:
792:Cohen, M. Michael; Kreiborg, Sven (May 1995).
642:Russell, William P.; Russell, Mark R. (2023),
641:
637:
635:
352:
327:imaging, such as X-ray imaging, and molecular
2517:
2352:
2232:"Entry #201000 - Carpenter Syndrome 1; CRPT1"
2173:
2099:
1131:
791:
787:
785:
99:the conditions are typically inherited in an
2014:
1892:
1839:
1784:
1726:
1669:
1611:
1555:
1376:
1249:
1150:
1098:
1071:
1065:
455:Patient with Crouzon (ACS Type II) syndrome
2167:
2125:"Entry - #123500 - CROUZON SYNDROME - OMIM"
1505:
1438:
1326:
1188:
996:
938:
832:
725:
668:
632:
499:type IV â Goodman syndrome (archaic)
49:Syndactyly in acrocephalosyndactyly (Apert)
2524:
2510:
1971:
1144:Pediatrics: Genetics and Metabolic Disease
1018:
782:
449:
398:
40:
2390:at the U.S. National Library of Medicine
2207:
2054:
1693:
1652:
1488:
1470:
1421:
1403:
765:
692:
628:, New York, NY: The McGraw-Hill Companies
404:Patient with Apert (ACS Type I) syndrome
315:to detect atypical fetal skull features.
2108:
1137:
674:
644:"Anatomy, Head and Neck, Coronal Suture"
1005:
307:, where the fetus is observed using an
2971:
1625:The American Journal of Human Genetics
794:"Hands and feet in the Apert syndrome"
318:
180:variations that are present at birth.
2505:
1977:
1024:
838:
731:
282:
2336:
2113:. Johns Hopkins Press. pp. 3â5.
1797:Plastic & Reconstructive Surgery
1742:Plastic & Reconstructive Surgery
1521:American Journal of Medical Genetics
1342:American Journal of Medical Genetics
798:American Journal of Medical Genetics
540:In more severe subtypes, as seen in
126:âhighest, at the extremityâ, ÎșΔÏαλΟ
2174:Reardon, W.; Winter, R. M. (1994).
1954:"Entry #101600 - Pfeiffer Syndrome"
508:
484:Summitt syndrome incorporated into
477:Goodman syndrome incorporated into
209:Fibroblast growth factor receptor (
13:
1277:10.1097/01.SCS.0000157078.53871.11
1072:M Das, Joe; Winters, Ryan (2023),
1048:"Entry - #101200 - Apert Syndrome"
954:Plastic and Reconstructive Surgery
738:European Journal of Human Genetics
468:type I â Noack syndrome (archaic)
433:type IV â Mohr syndrome (archaic)
166:
14:
2995:
2773:BannayanâRileyâRuvalcaba syndrome
2381:
2285:"Entry 272350 - Summitt Syndrome"
2082:"Entry - %252100 - Mohr Syndrome"
1980:"Apert or Apert-Crouzon Syndrome"
622:"Acrocephalosyndactyly Syndromes"
2339:"Headlines Craniofacial Support"
1917:10.1111/j.1399-0004.2005.00477.x
1265:Journal of Craniofacial Surgery
1027:Bull. MĂ©m. Soc. MĂ©d. HĂŽp. Paris
192:pattern, with the exclusion of
2580:BonnetâDechaumeâBlanc syndrome
1992:10.1007/978-1-4020-6754-9_1009
1978:RĂ©dei, George P., ed. (2008),
1140:"Genetics of Crouzon Syndrome"
1:
2575:SakatiâNyhanâTisdale syndrome
593:
547:
529:
495:Sakati-Nyhan-Tisdale syndrome
254:Impacts of Conditions on Life
157:
2813:Tatton-BrownâRahman syndrome
2783:Benign symmetric lipomatosis
2039:10.1097/GOX.0000000000003204
1809:10.1097/PRS.0000000000005479
1754:10.1097/PRS.0b013e318262f355
1392:Saudi Journal of Anaesthesia
966:10.1097/PRS.0000000000004815
503:
277:
7:
2903:Branchio-oto-renal syndrome
2778:BeckwithâWiedemann syndrome
2180:Journal of Medical Genetics
576:
353:Nomenclature/Classification
239:, can be very detrimental.
10:
3000:
2875:ZimmermannâLaband syndrome
2827:LaurenceâMoonâBardetâBiedl
2788:KlippelâTrĂ©naunay syndrome
2738:Caudal regression syndrome
2713:KlippelâTrĂ©naunay syndrome
2675:SmithâLemliâOpitz syndrome
2645:Cornelia de Lange syndrome
2176:"Saethre-Chotzen syndrome"
1164:"Saethre-Chotzen Syndrome"
117:
2847:
2826:
2763:
2723:RubinsteinâTaybi syndrome
2693:
2620:
2540:
2475:
2401:
1879:rarediseases.info.nih.gov
1581:10.1007/s00439-003-1012-7
462:acrocephalopolysyndactyly
301:chorionic villus sampling
53:
48:
39:
31:
26:
2793:Neurofibromatosis type I
2680:SnyderâRobinson syndrome
2630:1q21.1 deletion syndrome
2570:SaethreâChotzen syndrome
2392:Medical Subject Headings
1405:10.4103/1658-354X.136631
1138:Tolarova, M. M. (2023).
675:Opperman, L. A. (2000).
424:SaethreâChotzen syndrome
386:Orofaciodigital syndrome
288:Diagnosis prior to birth
183:
134:'together' and ÎŽÎŹÎșÏÏ
λοÏ
2703:Adducted thumb syndrome
2665:SilverâRussell syndrome
1533:10.1002/ajmg.1320110103
1472:10.1073/pnas.93.15.7894
1354:10.1002/ajmg.1320280208
810:10.1002/ajmg.1320570119
583:List of skin conditions
2839:LaurenceâMoon syndrome
2635:AarskogâScott syndrome
2590:BallerâGerold syndrome
2533:Congenital abnormality
2388:Acrocephalosyndactylia
1682:Developmental Dynamics
930:: CS1 maint: others (
681:Developmental Dynamics
196:which is inherited in
78:) and hands and feet (
2834:BardetâBiedl syndrome
2718:Nailâpatella syndrome
2610:Pierre Robin sequence
2550:Acrocephalosyndactyly
1146:– via Medscape.
1008:Trans Pathol Soc Lond
563:research institutions
392:Acrocephalosyndactyly
72:congenital conditions
68:Acrocephalosyndactyly
27:Acrocephalosyndactyly
2765:Overgrowth syndromes
2192:10.1136/jmg.31.5.393
750:10.1038/ejhg.2012.14
2753:VACTERL association
2360:"Pfeiffer Syndrome"
1851:search.worldcat.org
1463:1996PNAS...93.7894G
1074:"Pfeiffer Syndrome"
377:(ASC type II), and
319:Postnatal Diagnosis
248:variable expression
198:autosomal recessive
2708:HoltâOram syndrome
2600:Goldenhar syndrome
2560:Carpenter syndrome
2476:External resources
1695:10.1002/dvdy.24673
1219:10.1038/ng0295-165
839:Malik, S. (2014).
732:Malik, S. (2012).
513:For subtypes with
486:Carpenter syndrome
479:Carpenter syndrome
473:Carpenter syndrome
367:Carpenter syndrome
283:Prenatal Diagnosis
272:social integration
194:Carpenter Syndrome
190:autosomal dominant
101:autosomal dominant
2966:
2965:
2863:Feingold syndrome
2650:Dubowitz syndrome
2640:Cockayne syndrome
2565:Pfeiffer syndrome
2499:
2498:
2337:Anderson, Peter.
2001:978-1-4020-6754-9
1905:Clinical Genetics
1688:(11): 1175â1185.
1457:(15): 7894â7899.
857:10.1111/cge.12276
845:Clinical Genetics
438:Pfeiffer syndrome
363:Pfeiffer syndrome
292:genetic diagnosis
65:
64:
21:Medical condition
16:Group of diseases
2991:
2947:Donohue syndrome
2923:Timothy syndrome
2803:Proteus syndrome
2798:Perlman syndrome
2660:Robinow syndrome
2605:Moebius syndrome
2526:
2519:
2512:
2503:
2502:
2399:
2398:
2375:
2374:
2372:
2370:
2356:
2350:
2349:
2348:on 30 June 2012.
2344:. Archived from
2343:
2334:
2325:
2324:
2322:
2320:
2306:
2300:
2299:
2297:
2295:
2281:
2275:
2274:
2272:
2270:
2256:
2247:
2246:
2244:
2242:
2228:
2222:
2221:
2211:
2171:
2165:
2164:
2162:
2160:
2146:
2140:
2139:
2137:
2135:
2121:
2115:
2114:
2106:
2097:
2096:
2094:
2092:
2078:
2069:
2068:
2058:
2018:
2012:
2011:
2010:
2008:
1975:
1969:
1968:
1966:
1964:
1950:
1937:
1936:
1896:
1890:
1889:
1887:
1885:
1871:
1862:
1861:
1859:
1857:
1843:
1837:
1836:
1803:(4): 1136â1145.
1788:
1782:
1781:
1748:(4): 572eâ576e.
1733:
1724:
1723:
1697:
1673:
1667:
1666:
1656:
1631:(6): 1162â1170.
1615:
1609:
1608:
1559:
1553:
1552:
1512:
1503:
1502:
1492:
1474:
1442:
1436:
1435:
1425:
1407:
1383:
1374:
1373:
1333:
1324:
1323:
1311:
1305:
1304:
1256:
1247:
1246:
1197:
1186:
1185:
1184:
1182:
1159:
1148:
1147:
1135:
1129:
1128:
1127:
1125:
1107:"Apert Syndrome"
1102:
1096:
1095:
1094:
1092:
1069:
1063:
1062:
1060:
1058:
1044:
1035:
1034:
1022:
1016:
1015:
1003:
994:
993:
945:
936:
935:
929:
921:
894:
885:
884:
836:
830:
829:
789:
780:
779:
769:
729:
723:
722:
696:
672:
666:
665:
664:
662:
639:
630:
629:
617:
571:health insurance
515:craniosynostosis
509:Craniosynostosis
460:A related term,
453:
418:Crouzon syndrome
402:
237:progenitor cells
144:craniosynostosis
105:craniosynostosis
84:Craniosynostosis
76:craniosynostosis
60:Medical genetics
44:
24:
23:
2999:
2998:
2994:
2993:
2992:
2990:
2989:
2988:
2969:
2968:
2967:
2962:
2935:Marfan syndrome
2919:Keutel syndrome
2907:CHARGE syndrome
2891:Fraser syndrome
2849:
2848:Combined/other,
2843:
2822:
2818:Weaver syndrome
2759:
2689:
2685:Turner syndrome
2670:Seckel syndrome
2655:Noonan syndrome
2616:
2536:
2530:
2500:
2495:
2494:
2471:
2470:
2410:
2384:
2379:
2378:
2368:
2366:
2358:
2357:
2353:
2341:
2335:
2328:
2318:
2316:
2308:
2307:
2303:
2293:
2291:
2283:
2282:
2278:
2268:
2266:
2258:
2257:
2250:
2240:
2238:
2230:
2229:
2225:
2172:
2168:
2158:
2156:
2148:
2147:
2143:
2133:
2131:
2123:
2122:
2118:
2107:
2100:
2090:
2088:
2080:
2079:
2072:
2019:
2015:
2006:
2004:
2002:
1976:
1972:
1962:
1960:
1952:
1951:
1940:
1897:
1893:
1883:
1881:
1873:
1872:
1865:
1855:
1853:
1845:
1844:
1840:
1789:
1785:
1734:
1727:
1674:
1670:
1616:
1612:
1560:
1556:
1513:
1506:
1443:
1439:
1384:
1377:
1334:
1327:
1312:
1308:
1257:
1250:
1207:Nature Genetics
1198:
1189:
1180:
1178:
1160:
1151:
1136:
1132:
1123:
1121:
1103:
1099:
1090:
1088:
1070:
1066:
1056:
1054:
1046:
1045:
1038:
1023:
1019:
1004:
997:
946:
939:
923:
922:
910:
896:
895:
888:
837:
833:
790:
783:
730:
726:
673:
669:
660:
658:
640:
633:
618:
601:
596:
579:
550:
532:
511:
506:
488:classification
481:classification
458:
457:
456:
407:
406:
405:
355:
329:genetic testing
321:
285:
280:
261:assisted living
256:
186:
169:
167:Characteristics
160:
120:
88:Cranial sutures
22:
17:
12:
11:
5:
2997:
2987:
2986:
2981:
2979:Genodermatoses
2964:
2963:
2961:
2960:
2959:
2958:
2956:Fryns syndrome
2950:
2938:
2926:
2910:
2894:
2878:
2866:
2853:
2851:
2845:
2844:
2842:
2841:
2836:
2830:
2828:
2824:
2823:
2821:
2820:
2815:
2810:
2808:Sotos syndrome
2805:
2800:
2795:
2790:
2785:
2780:
2775:
2769:
2767:
2761:
2760:
2758:
2757:
2756:
2755:
2750:
2745:
2740:
2725:
2720:
2715:
2710:
2705:
2699:
2697:
2691:
2690:
2688:
2687:
2682:
2677:
2672:
2667:
2662:
2657:
2652:
2647:
2642:
2637:
2632:
2626:
2624:
2618:
2617:
2615:
2614:
2613:
2612:
2607:
2602:
2597:
2592:
2584:
2583:
2582:
2577:
2572:
2567:
2562:
2557:
2555:Apert syndrome
2546:
2544:
2538:
2537:
2529:
2528:
2521:
2514:
2506:
2497:
2496:
2493:
2492:
2480:
2479:
2477:
2473:
2472:
2469:
2468:
2457:
2442:
2427:
2411:
2406:
2405:
2403:
2402:Classification
2396:
2395:
2383:
2382:External links
2380:
2377:
2376:
2351:
2326:
2301:
2276:
2248:
2223:
2186:(5): 393â396.
2166:
2141:
2116:
2098:
2070:
2013:
2000:
1970:
1938:
1911:(2): 179â181.
1891:
1863:
1838:
1783:
1725:
1668:
1637:10.1086/518047
1610:
1569:Human Genetics
1554:
1504:
1437:
1398:(3): 399â401.
1375:
1348:(2): 311â324.
1325:
1306:
1271:(3): 361â368.
1248:
1213:(2): 165â172.
1187:
1149:
1130:
1097:
1064:
1036:
1017:
995:
960:(4): 972â982.
937:
908:
886:
851:(3): 203â212.
831:
781:
744:(8): 817â824.
724:
687:(4): 472â485.
667:
631:
598:
597:
595:
592:
591:
590:
585:
578:
575:
549:
546:
542:Apert syndrome
531:
528:
510:
507:
505:
502:
501:
500:
497:
491:
490:
489:
482:
469:
454:
448:
447:
446:
445:
444:
443:
434:
431:
430:
429:
420:
414:
412:Apert syndrome
403:
397:
396:
373:(ASC type I),
354:
351:
320:
317:
284:
281:
279:
276:
255:
252:
185:
182:
174:fibrous joints
168:
165:
159:
156:
152:Apert syndrome
119:
116:
70:is a group of
63:
62:
57:
51:
50:
46:
45:
37:
36:
33:
29:
28:
20:
15:
9:
6:
4:
3:
2:
2996:
2985:
2984:Rare diseases
2982:
2980:
2977:
2976:
2974:
2957:
2954:
2953:
2951:
2948:
2944:
2943:
2939:
2936:
2932:
2931:
2927:
2924:
2920:
2916:
2915:
2911:
2908:
2904:
2900:
2899:
2895:
2892:
2888:
2887:
2883:
2879:
2876:
2872:
2871:
2867:
2864:
2860:
2859:
2855:
2854:
2852:
2846:
2840:
2837:
2835:
2832:
2831:
2829:
2825:
2819:
2816:
2814:
2811:
2809:
2806:
2804:
2801:
2799:
2796:
2794:
2791:
2789:
2786:
2784:
2781:
2779:
2776:
2774:
2771:
2770:
2768:
2766:
2762:
2754:
2751:
2749:
2746:
2744:
2741:
2739:
2736:
2735:
2733:
2729:
2726:
2724:
2721:
2719:
2716:
2714:
2711:
2709:
2706:
2704:
2701:
2700:
2698:
2696:
2692:
2686:
2683:
2681:
2678:
2676:
2673:
2671:
2668:
2666:
2663:
2661:
2658:
2656:
2653:
2651:
2648:
2646:
2643:
2641:
2638:
2636:
2633:
2631:
2628:
2627:
2625:
2623:
2622:Short stature
2619:
2611:
2608:
2606:
2603:
2601:
2598:
2596:
2593:
2591:
2588:
2587:
2585:
2581:
2578:
2576:
2573:
2571:
2568:
2566:
2563:
2561:
2558:
2556:
2553:
2552:
2551:
2548:
2547:
2545:
2543:
2539:
2534:
2527:
2522:
2520:
2515:
2513:
2508:
2507:
2504:
2491:
2487:
2486:
2482:
2481:
2478:
2474:
2467:
2463:
2462:
2458:
2456:
2452:
2451:
2447:
2443:
2441:
2437:
2436:
2432:
2428:
2426:
2422:
2421:
2417:
2413:
2412:
2409:
2404:
2400:
2393:
2389:
2386:
2385:
2365:
2361:
2355:
2347:
2340:
2333:
2331:
2315:
2311:
2305:
2290:
2286:
2280:
2265:
2261:
2255:
2253:
2237:
2233:
2227:
2219:
2215:
2210:
2205:
2201:
2197:
2193:
2189:
2185:
2181:
2177:
2170:
2155:
2151:
2145:
2130:
2126:
2120:
2112:
2105:
2103:
2087:
2083:
2077:
2075:
2066:
2062:
2057:
2052:
2048:
2044:
2040:
2036:
2033:(10): e3204.
2032:
2028:
2024:
2017:
2003:
1997:
1993:
1989:
1985:
1981:
1974:
1959:
1955:
1949:
1947:
1945:
1943:
1934:
1930:
1926:
1922:
1918:
1914:
1910:
1906:
1902:
1895:
1880:
1876:
1870:
1868:
1852:
1848:
1842:
1834:
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1818:
1814:
1810:
1806:
1802:
1798:
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1767:
1763:
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1713:
1709:
1705:
1701:
1696:
1691:
1687:
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1679:
1672:
1664:
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1655:
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1646:
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1634:
1630:
1626:
1622:
1614:
1606:
1602:
1598:
1594:
1590:
1586:
1582:
1578:
1574:
1570:
1566:
1558:
1550:
1546:
1542:
1538:
1534:
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1522:
1518:
1511:
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1500:
1496:
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1478:
1473:
1468:
1464:
1460:
1456:
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1424:
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1415:
1411:
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1401:
1397:
1393:
1389:
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1380:
1371:
1367:
1363:
1359:
1355:
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1134:
1120:
1116:
1112:
1108:
1101:
1087:
1083:
1079:
1075:
1068:
1053:
1049:
1043:
1041:
1032:
1028:
1021:
1013:
1009:
1002:
1000:
991:
987:
983:
979:
975:
971:
967:
963:
959:
955:
951:
944:
942:
933:
927:
919:
915:
911:
909:0-19-511843-X
905:
901:
900:
893:
891:
882:
878:
874:
870:
866:
862:
858:
854:
850:
846:
842:
835:
827:
823:
819:
815:
811:
807:
803:
799:
795:
788:
786:
777:
773:
768:
763:
759:
755:
751:
747:
743:
739:
735:
728:
720:
716:
712:
708:
704:
700:
695:
690:
686:
682:
678:
671:
657:
653:
649:
645:
638:
636:
627:
623:
616:
614:
612:
610:
608:
606:
604:
599:
589:
586:
584:
581:
580:
574:
572:
568:
567:financial aid
564:
560:
556:
545:
543:
538:
536:
527:
524:
520:
519:brachycephaly
516:
498:
496:
492:
487:
483:
480:
476:
475:
474:
470:
467:
466:
465:
463:
452:
441:
440:
439:
435:
432:
427:
426:
425:
421:
419:
415:
413:
409:
408:
401:
395:
393:
389:
387:
382:
380:
376:
372:
368:
364:
359:
350:
348:
347:
342:
341:
336:
335:
330:
326:
316:
314:
310:
306:
302:
298:
297:amniocentesis
293:
289:
275:
273:
268:
266:
262:
251:
249:
245:
240:
238:
234:
233:organogenesis
230:
226:
225:
220:
219:
214:
212:
206:
204:
199:
195:
191:
181:
179:
175:
164:
155:
153:
149:
145:
141:
137:
133:
129:
125:
115:
112:
110:
106:
102:
97:
93:
89:
85:
81:
77:
73:
69:
61:
58:
56:
52:
47:
43:
38:
34:
30:
25:
19:
2940:
2928:
2912:
2896:
2880:
2868:
2856:
2728:Gastrulation
2549:
2542:Craniofacial
2483:
2459:
2444:
2429:
2414:
2367:. Retrieved
2363:
2354:
2346:the original
2317:. Retrieved
2313:
2304:
2292:. Retrieved
2288:
2279:
2267:. Retrieved
2263:
2239:. Retrieved
2235:
2226:
2183:
2179:
2169:
2157:. Retrieved
2153:
2144:
2132:. Retrieved
2128:
2119:
2110:
2089:. Retrieved
2085:
2030:
2026:
2016:
2005:, retrieved
1983:
1973:
1961:. Retrieved
1957:
1908:
1904:
1894:
1882:. Retrieved
1878:
1854:. Retrieved
1850:
1841:
1800:
1796:
1786:
1745:
1741:
1685:
1681:
1671:
1628:
1624:
1613:
1575:(1): 68â76.
1572:
1568:
1557:
1524:
1520:
1454:
1450:
1440:
1395:
1391:
1345:
1341:
1319:
1309:
1268:
1264:
1210:
1206:
1179:, retrieved
1168:GeneReviewsÂź
1167:
1143:
1133:
1122:, retrieved
1110:
1100:
1089:, retrieved
1077:
1067:
1055:. Retrieved
1051:
1033:: 1310â1330.
1030:
1026:
1020:
1011:
1007:
957:
953:
898:
848:
844:
834:
804:(1): 82â96.
801:
797:
741:
737:
727:
684:
680:
670:
659:, retrieved
647:
625:
559:universities
551:
539:
533:
523:Cranioplasty
512:
461:
459:
391:
390:
383:
360:
356:
344:
338:
332:
325:radiographic
322:
286:
269:
257:
241:
228:
222:
217:
210:
202:
187:
170:
161:
140:EugĂšne Apert
135:
131:
130:âheadâ, ÏÏÎœ
127:
123:
121:
113:
67:
66:
18:
2850:known locus
2748:Sirenomelia
493:type III â
422:type III â
96:polydactyly
32:Other names
2973:Categories
2743:Ectromelia
2369:5 November
2319:4 December
2294:4 December
2269:4 December
2241:4 December
2159:5 November
2134:5 November
2091:5 November
2007:5 November
1963:4 December
1884:5 November
1856:4 December
1527:(1): 5â9.
1181:4 December
1124:4 December
1111:StatPearls
1091:4 December
1078:StatPearls
1057:4 December
1014:: 238â241.
661:4 December
648:StatPearls
594:References
588:Oxycephaly
555:caregivers
548:Management
535:Syndactyly
530:Syndactyly
471:type II â
416:type II â
313:ultrasound
244:penetrance
158:Prevalence
148:syndactyly
136:(daktylos)
109:syndactyly
92:Syndactyly
80:syndactyly
2952:Multiple
2535:syndromes
2200:0022-2593
2047:2169-7574
1817:0032-1052
1762:0032-1052
1704:1058-8388
1645:0002-9297
1589:1432-1203
1541:0148-7299
1481:0027-8424
1414:1658-354X
1362:0148-7299
1285:1049-2275
1227:1546-1718
974:0032-1052
926:cite book
865:0009-9163
818:0148-7299
758:1476-5438
703:1058-8388
504:Treatment
436:type V â
410:type I â
309:endoscope
305:fetoscopy
278:Diagnosis
128:(kephaláž)
55:Specialty
2732:mesoderm
2595:Cyclopia
2485:Orphanet
2314:omim.org
2289:omim.org
2264:omim.org
2236:omim.org
2154:omim.org
2129:omim.org
2086:omim.org
2065:33173703
1958:omim.org
1925:15996217
1833:59225959
1825:30676503
1778:45847015
1770:23018718
1720:52815441
1712:30251381
1663:17503333
1605:20929600
1597:14513358
1432:25191197
1301:23327865
1293:15915098
1243:12423131
1176:20301368
1119:30085535
1086:30422477
1052:omim.org
990:51614940
982:29994846
918:41528658
881:22412404
873:24020795
776:22333904
711:11084647
656:30252267
577:See also
379:Pfeiffer
265:epilepsy
205:variants
200:manner.
2466:D000168
2218:8064818
2209:1049872
2056:7647527
1933:1652216
1654:1867103
1549:7065003
1499:8755573
1459:Bibcode
1423:4141395
1370:3322002
1235:7719344
826:7645606
767:3400728
719:8801611
394:(ACS):
375:Crouzon
349:genes.
246:with a
221:, and
203:De-novo
118:History
2586:Other
2455:755.55
2425:LD24.G
2394:(MeSH)
2216:
2206:
2198:
2063:
2053:
2045:
1998:
1931:
1923:
1831:
1823:
1815:
1776:
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343:, and
340:TWIST1
218:TWIST1
124:ĂĄkros)
2695:Limbs
2440:Q87.0
2342:(PDF)
1929:S2CID
1829:S2CID
1774:S2CID
1716:S2CID
1601:S2CID
1490:38845
1297:S2CID
1239:S2CID
986:S2CID
877:S2CID
715:S2CID
371:Apert
346:RAB23
224:RAB23
184:Cause
178:heart
132:(syn)
2461:MeSH
2450:9-CM
2371:2022
2321:2023
2296:2023
2271:2023
2243:2023
2214:PMID
2196:ISSN
2161:2022
2136:2022
2093:2022
2061:PMID
2043:ISSN
2009:2022
1996:ISBN
1965:2023
1921:PMID
1886:2022
1858:2023
1821:PMID
1813:ISSN
1766:PMID
1758:ISSN
1708:PMID
1700:ISSN
1659:PMID
1641:ISSN
1593:PMID
1585:ISSN
1545:PMID
1537:ISSN
1495:PMID
1477:ISSN
1428:PMID
1410:ISSN
1366:PMID
1358:ISSN
1289:PMID
1281:ISSN
1231:PMID
1223:ISSN
1183:2023
1172:PMID
1126:2023
1115:PMID
1093:2023
1082:PMID
1059:2023
978:PMID
970:ISSN
932:link
914:OCLC
904:ISBN
869:PMID
861:ISSN
822:PMID
814:ISSN
772:PMID
754:ISSN
707:PMID
699:ISSN
663:2023
652:PMID
334:FGFR
211:FGFR
146:and
107:and
2490:946
2446:ICD
2431:ICD
2416:ICD
2204:PMC
2188:doi
2051:PMC
2035:doi
1988:doi
1913:doi
1805:doi
1801:143
1750:doi
1746:130
1690:doi
1686:247
1649:PMC
1633:doi
1577:doi
1573:114
1529:doi
1485:PMC
1467:doi
1418:PMC
1400:doi
1350:doi
1273:doi
1215:doi
962:doi
958:142
853:doi
806:doi
762:PMC
746:doi
689:doi
685:219
561:or
229:FGF
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