462:
411:
53:
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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
368:
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
109:
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
1629:
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).
555:, 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.
536:
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.
182:
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
1211:
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).
1573:
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).
261:, 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.
2456:
2441:
2426:
305:
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
173:
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.
563:
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
218:, 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
2032:
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).
584:, 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.
2534:
101:
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.
1270:
Carinci, Francesco; Pezzetti, Furio; Locci, Paola; Becchetti, Ennio; Carls, Friedrick; Avantaggiato, Anna; Becchetti, Alessio; Carinci, Paolo; Baroni, Tiziano; Bodo, Maria (May 2005).
369:
century. However, this classification may be outdated as it has been suggested that the distinction between acrocephalosyndactyly and acrocephalopolysyndactyly should be erased.
1687:
Yamaji, Kojiro; Morita, Jumpei; Watanabe, Tsukasa; Gunjigake, Kaori; Nakatomi, Mitsushiro; Shiga, Momotoshi; Ono, Kentaro; Moriyama, Keiji; Kawamoto, Tatsuo (November 2018).
568:
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
2527:
461:
187:
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
1173:
Gallagher, Emily R.; Ratisoontorn, Chootima; Cunningham, Michael L. (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.),
2349:
1271:
1576:"Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening"
2783:
1912:"Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation: Letter to the Editor"
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505:
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Fortunately, many individual with the condition report similar levels of happiness with their lives as non-afflicted individuals and show high
2010:
1910:
Gonzales, M.; Heuertz, S.; Martinovic, J.; Delahaye, S.; Bazin, A.; Loget, P.; Pasquier, L.; Le Merrer, M.; Bonaventure, J. (17 June 2005).
2685:
1349:"Acrocephalopolysyndactyly type IIâCarpenter syndrome: Clinical spectrum and an attempt at unification with Goodman and Summit syndromes"
1347:
Cohen, Donald M.; Green, James G.; Miller, Janice; Gorlin, Robert J.; Reed, Jerry A.; Opitz, John M.; Reynolds, James F. (October 1987).
334:
Most diagnoses of acrocephalosyndactyly occur after birth by assessing the physical symptoms of the infant. This can be supported with
2798:
2723:
1458:"Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras"
918:
344:
219:
2823:
1017:
Wheaton, S. W. (1894). "Two specimens of congenital cranial deformity in infants associated with fusion of the fingers and toes".
1632:"RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity"
2788:
133:
Cases of the condition have been recorded as early as the 18th century. The term acrocephalosyndactyly (from Greek áŒÎșÏÎżÏ (
704:
687:
2885:
125:
The severity of symptoms for acrocephalosyndactyly varies significantly by subtype and treatment in the early stages of life.
97:
occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development.
2733:
165:
subtype of acrocephalosyndactyly. Other subtypes of acrocephalosyndactyly were characterized throughout the 20th century.
2690:
2580:
434:
399:
type II. Pfeiffer syndrome was formerly type VI and
Waardenburg type V, but this was changed sometime after 1966.
322:
inserted into the uterus from the abdomen. Alternatively, there has been interest in using non-invasive techniques like
2793:
2675:
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2705:
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2645:
2600:
2748:
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942:
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2728:
1747:
TovetjÀrn, Robert; Tarnow, Peter; Maltese, Giovanni; Fischer, Sara; Sahlin, Per-Erik; Kölby, Lars (October 2012).
532:). The cranial suture located between the two frontal and two parietal skull bones is called the coronal suture.
311:
2803:
2640:
2552:
2471:
2402:
396:
342:, which looks for DNA variations known to cause the disease. Molecular genetic testing typically occurs in the
2989:
2713:
1885:
959:
Raposo-Amaral, Cassio
Eduardo; Denadai, Rafael; Furlan, Pedro; Raposo-Amaral, Cesar Augusto (October 2018).
593:
350:
258:
227:
2718:
2994:
2543:
2122:
Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes
2034:"Cortical Thickness in Crouzon-Pfeiffer Syndrome: Findings in Relation to Primary Cranial Vault Expansion"
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2940:
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2896:
2620:
2500:
395:
Acrocephalosyndactyly type IV was formerly called Mohr
Syndrome, however, it was later classified under
1911:
314:, which samples placental cells. There has been a case of a prenatal diagnosis of Apert syndrome using
632:
2908:
2892:
2880:
2868:
1469:
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in certain subtypes is rarely severe enough to affect hand function, so treatment may not be needed.
208:
200:
111:
1802:
Taghinia, Amir H.; Yorlets, Rachel R.; Doyle, Michael; Labow, Brian I.; Upton, Joseph (April 2019).
1326:
2775:
2763:
2460:
2398:
1150:
528:, surgery is required to prevent premature fusion of cranial sutures, such as the coronal suture (
242:
R, which is heavily involved during the development stage of embryos such as organ development or
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377:
323:
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475:(ACPS), refers to the inclusion of polydactyly to the presentation. It also has multiple types:
1214:"Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome"
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aspects, such as dating, marriage, or sexual relationships. They may also report the need for
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65:
913:. M. Michael Cohen, Ruth E. MacLean (2nd ed.). New York: Oxford University Press. 2000.
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385:
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115:
94:
86:
70:
1886:"Apert syndrome - Diagnosis & Treatment - Genetic and Rare Diseases Information Center"
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2033:
1749:"Children with Apert Syndrome as Adults: A Follow-Up Study of 28 Scandinavian Patients"
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Leonard, Claire O.; Daikoku, Norman H.; Winn, Kevin; Opitz, John M. (January 1982).
1311:
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1000:
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2512:
2002:
1943:
960:
729:
631:
Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006),
533:
439:
Robinow-Sorauf syndrome suggested to be included in
Saethre-Chotzen classification
82:
199:
Most forms of acrocephalosyndactyly or acrocephalopolysyndactyly are inherited in
2476:
2049:
1990:
1819:
1764:
1399:"Anesthetic management of craniosynostosis repair in patient with Apert syndrome"
976:
253:
Genetically inherited acrocephalosyndactyly conditions all show high to complete
2758:
1456:
Galvin, B D; Hart, K C; Meyer, A N; Webster, M K; Donoghue, D J (23 July 1996).
1272:"Apert and Crouzon Syndromes: Clinical Findings, Genes and Extracellular Matrix"
335:
274:
throughout their life as well as other health issues, such as hearing issues or
106:
1117:
1084:
654:
2753:
2450:
1689:"Maldevelopment of the submandibular gland in a mouse model of apert syndrome"
1591:
961:"Treatment of Apert Hand Syndrome: Strategies for Achieving a Five-Digit Hand"
598:
569:
545:
376:(ACS type V); Goodman syndrome (ACPS type IV) is classified as a variation of
254:
158:
119:
102:
90:
2210:
2057:
1857:
1827:
1804:"Long-Term Functional Upper-Extremity Outcomes in Adults with Apert Syndrome"
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as well as great physical and emotional resilience despite any impediments.
114:
pattern
Treatment often involves surgery in early childhood to correct for
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2605:
2495:
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908:
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2418:
1858:"The encyclopedia of genetic disorders and birth defects | WorldCat.org"
392:(ASC type V) syndrome into Apert-Crouzon and Crouzon-Pfeiffer syndrome.
1705:
1688:
1229:
577:
1397:
Kumar, Niraj; Arora, Shubhangi; Bindra, Ashish; Goyal, Keshav (2014).
1116:
Conrady, Christopher D.; Patel, Bhupendra C.; Sharma, Sandeep (2023),
867:
705:
10.1002/1097-0177(2000)9999:9999<::AID-DVDY1073>3.0.CO;2-F
310:, which samples embryonic stem cells contained in amniotic fluid, or
238:. Constitutive activation in these categories of genes, particularly
2445:
2430:
576:. Caregivers can prevent future challenges by exploring options for
1647:
1880:
1878:
453:
Noack syndrome incorporated into
Pfeiffer syndrome classification
356:
234:
188:
1325:
Bissonnette, Bruno; Luginbuehl, Igor; Engelhardt, Thomas (2019),
105:
occurs when digits of the hands or feet are fused together. When
2320:
2295:
2270:
2242:
2160:
2135:
2092:
1058:
2516:
2356:
1995:
Encyclopedia of
Genetics, Genomics, Proteomics and Informatics
903:
901:
301:
is possible for some forms of acrocephalosyndactyly. Prenatal
910:
Craniosynostosis : diagnosis, evaluation, and management
745:"Syndactyly: phenotypes, genetics and current classification"
372:
Currently, Noack syndrome (ACPS type I) is now classified as
1331:
Syndromes: Rapid Recognition and Perioperative Implications
637:
Syndromes: Rapid Recognition and Perioperative Implications
85:
characterized by irregular features of the face and skull (
2120:
McKusick, V. A. (1966). "Autosomal Dominant Phenotypes".
2265:
2263:
2161:"Entry - #101400 - SAETHRE-CHOTZEN SYNDROME; SCS - OMIM"
2087:
2085:
1959:
1957:
1955:
1953:
1053:
1051:
380:(ACPS type II); and different researchers have combined
149:'finger') was first applied in 1906 by French physician
161:. The condition described by Apert is now known as the
852:"Polydactyly: phenotypes, genetics and classification"
688:"Cranial sutures as intramembranous bone growth sites"
246:
and the maintenance of tissue forming cells, known as
2343:
2341:
1528:"Prenatal fetoscopic diagnosis of the Apert syndrome"
1327:"Acrocephalopolysyndactyly Type IV: Goodman Syndrome"
2408:
1036:
Apert, M. E. (1906). "De l'acrocephalosyndactylie".
278:
at a more common frequency than their counterparts.
2858:
2837:
2774:
2704:
2631:
2551:
2486:
2412:
2321:"Entry 101120 - Acrocephalopolysyndactyly type III"
1181:, Seattle (WA): University of Washington, Seattle,
64:
42:
37:
2271:"Entry 201020 - Acrocephalopolysyndactyly type IV"
626:
624:
622:
620:
618:
616:
614:
1333:(2 ed.), New York, NY: McGraw-Hill Education
2115:
2113:
1997:, Dordrecht: Springer Netherlands, p. 127,
2375:NORD (National Organization for Rare Disorders)
2038:Plastic and Reconstructive Surgery. Global Open
1742:
1740:
1462:Proceedings of the National Academy of Sciences
1392:
1390:
1265:
1263:
1168:
1166:
1164:
1124:, Treasure Island (FL): StatPearls Publishing,
1091:, Treasure Island (FL): StatPearls Publishing,
661:, Treasure Island (FL): StatPearls Publishing,
153:first to describe a condition characterized by
1521:
1519:
1342:
1340:
1206:
1204:
1202:
1012:
1010:
954:
952:
803:Cohen, M. Michael; Kreiborg, Sven (May 1995).
653:Russell, William P.; Russell, Mark R. (2023),
648:
646:
338:imaging, such as X-ray imaging, and molecular
2528:
2243:"Entry #201000 - Carpenter Syndrome 1; CRPT1"
798:
796:
110:the conditions are typically inherited in an
8:
466:Patient with Crouzon (ACS Type II) syndrome
2136:"Entry - #123500 - CROUZON SYNDROME - OMIM"
510:type IV â Goodman syndrome (archaic)
60:Syndactyly in acrocephalosyndactyly (Apert)
2535:
2521:
2513:
2409:
1155:Pediatrics: Genetics and Metabolic Disease
460:
409:
51:
34:
2401:at the U.S. National Library of Medicine
2218:
2065:
1704:
1663:
1499:
1481:
1432:
1414:
776:
703:
639:, New York, NY: The McGraw-Hill Companies
415:Patient with Apert (ACS Type I) syndrome
326:to detect atypical fetal skull features.
655:"Anatomy, Head and Neck, Coronal Suture"
610:
318:, where the fetus is observed using an
1636:The American Journal of Human Genetics
934:
805:"Hands and feet in the Apert syndrome"
191:variations that are present at birth.
7:
2124:. Johns Hopkins Press. pp. 3â5.
1808:Plastic & Reconstructive Surgery
1753:Plastic & Reconstructive Surgery
1532:American Journal of Medical Genetics
1353:American Journal of Medical Genetics
809:American Journal of Medical Genetics
551:In more severe subtypes, as seen in
137:âhighest, at the extremityâ, ÎșΔÏαλΟ
2185:Reardon, W.; Winter, R. M. (1994).
1965:"Entry #101600 - Pfeiffer Syndrome"
495:Summitt syndrome incorporated into
488:Goodman syndrome incorporated into
220:Fibroblast growth factor receptor (
1288:10.1097/01.SCS.0000157078.53871.11
1083:M Das, Joe; Winters, Ryan (2023),
1059:"Entry - #101200 - Apert Syndrome"
965:Plastic and Reconstructive Surgery
749:European Journal of Human Genetics
479:type I â Noack syndrome (archaic)
444:type IV â Mohr syndrome (archaic)
25:
2784:BannayanâRileyâRuvalcaba syndrome
2296:"Entry 272350 - Summitt Syndrome"
2093:"Entry - %252100 - Mohr Syndrome"
1991:"Apert or Apert-Crouzon Syndrome"
633:"Acrocephalosyndactyly Syndromes"
2350:"Headlines Craniofacial Support"
1928:10.1111/j.1399-0004.2005.00477.x
1276:Journal of Craniofacial Surgery
1038:Bull. MĂ©m. Soc. MĂ©d. HĂŽp. Paris
203:pattern, with the exclusion of
2591:BonnetâDechaumeâBlanc syndrome
2003:10.1007/978-1-4020-6754-9_1009
1989:RĂ©dei, George P., ed. (2008),
1151:"Genetics of Crouzon Syndrome"
1:
2586:SakatiâNyhanâTisdale syndrome
506:Sakati-Nyhan-Tisdale syndrome
265:Impacts of Conditions on Life
2824:Tatton-BrownâRahman syndrome
2794:Benign symmetric lipomatosis
2050:10.1097/GOX.0000000000003204
1820:10.1097/PRS.0000000000005479
1765:10.1097/PRS.0b013e318262f355
1403:Saudi Journal of Anaesthesia
977:10.1097/PRS.0000000000004815
2914:Branchio-oto-renal syndrome
2789:BeckwithâWiedemann syndrome
2191:Journal of Medical Genetics
364:Nomenclature/Classification
250:, can be very detrimental.
3011:
2886:ZimmermannâLaband syndrome
2838:LaurenceâMoonâBardetâBiedl
2799:KlippelâTrĂ©naunay syndrome
2749:Caudal regression syndrome
2724:KlippelâTrĂ©naunay syndrome
2686:SmithâLemliâOpitz syndrome
2656:Cornelia de Lange syndrome
2187:"Saethre-Chotzen syndrome"
1175:"Saethre-Chotzen Syndrome"
2734:RubinsteinâTaybi syndrome
1890:rarediseases.info.nih.gov
1592:10.1007/s00439-003-1012-7
473:acrocephalopolysyndactyly
312:chorionic villus sampling
59:
50:
18:Acrocephalopolysyndactyly
2804:Neurofibromatosis type I
2691:SnyderâRobinson syndrome
2641:1q21.1 deletion syndrome
2581:SaethreâChotzen syndrome
2403:Medical Subject Headings
1416:10.4103/1658-354X.136631
1149:Tolarova, M. M. (2023).
686:Opperman, L. A. (2000).
435:SaethreâChotzen syndrome
397:Orofaciodigital syndrome
299:Diagnosis prior to birth
145:'together' and ÎŽÎŹÎșÏÏ
λοÏ
2714:Adducted thumb syndrome
2676:SilverâRussell syndrome
1544:10.1002/ajmg.1320110103
1483:10.1073/pnas.93.15.7894
1365:10.1002/ajmg.1320280208
821:10.1002/ajmg.1320570119
594:List of skin conditions
2850:LaurenceâMoon syndrome
2646:AarskogâScott syndrome
2601:BallerâGerold syndrome
2544:Congenital abnormality
2399:Acrocephalosyndactylia
1693:Developmental Dynamics
941:: CS1 maint: others (
692:Developmental Dynamics
207:which is inherited in
89:) and hands and feet (
2845:BardetâBiedl syndrome
2729:Nailâpatella syndrome
2621:Pierre Robin sequence
2561:Acrocephalosyndactyly
1157:– via Medscape.
1019:Trans Pathol Soc Lond
574:research institutions
403:Acrocephalosyndactyly
83:congenital conditions
79:Acrocephalosyndactyly
38:Acrocephalosyndactyly
2776:Overgrowth syndromes
2203:10.1136/jmg.31.5.393
761:10.1038/ejhg.2012.14
2764:VACTERL association
2371:"Pfeiffer Syndrome"
1862:search.worldcat.org
1474:1996PNAS...93.7894G
1085:"Pfeiffer Syndrome"
388:(ASC type II), and
330:Postnatal Diagnosis
259:variable expression
209:autosomal recessive
2719:HoltâOram syndrome
2611:Goldenhar syndrome
2571:Carpenter syndrome
2487:External resources
1706:10.1002/dvdy.24673
1230:10.1038/ng0295-165
850:Malik, S. (2014).
743:Malik, S. (2012).
524:For subtypes with
497:Carpenter syndrome
490:Carpenter syndrome
484:Carpenter syndrome
378:Carpenter syndrome
294:Prenatal Diagnosis
283:social integration
205:Carpenter Syndrome
201:autosomal dominant
112:autosomal dominant
2977:
2976:
2874:Feingold syndrome
2661:Dubowitz syndrome
2651:Cockayne syndrome
2576:Pfeiffer syndrome
2510:
2509:
2348:Anderson, Peter.
2012:978-1-4020-6754-9
1916:Clinical Genetics
1699:(11): 1175â1185.
1468:(15): 7894â7899.
868:10.1111/cge.12276
856:Clinical Genetics
449:Pfeiffer syndrome
374:Pfeiffer syndrome
303:genetic diagnosis
76:
75:
32:Medical condition
27:Group of diseases
16:(Redirected from
3002:
2958:Donohue syndrome
2934:Timothy syndrome
2814:Proteus syndrome
2809:Perlman syndrome
2671:Robinow syndrome
2616:Moebius syndrome
2537:
2530:
2523:
2514:
2410:
2386:
2385:
2383:
2381:
2367:
2361:
2360:
2359:on 30 June 2012.
2355:. Archived from
2354:
2345:
2336:
2335:
2333:
2331:
2317:
2311:
2310:
2308:
2306:
2292:
2286:
2285:
2283:
2281:
2267:
2258:
2257:
2255:
2253:
2239:
2233:
2232:
2222:
2182:
2176:
2175:
2173:
2171:
2157:
2151:
2150:
2148:
2146:
2132:
2126:
2125:
2117:
2108:
2107:
2105:
2103:
2089:
2080:
2079:
2069:
2029:
2023:
2022:
2021:
2019:
1986:
1980:
1979:
1977:
1975:
1961:
1948:
1947:
1907:
1901:
1900:
1898:
1896:
1882:
1873:
1872:
1870:
1868:
1854:
1848:
1847:
1814:(4): 1136â1145.
1799:
1793:
1792:
1759:(4): 572eâ576e.
1744:
1735:
1734:
1708:
1684:
1678:
1677:
1667:
1642:(6): 1162â1170.
1626:
1620:
1619:
1570:
1564:
1563:
1523:
1514:
1513:
1503:
1485:
1453:
1447:
1446:
1436:
1418:
1394:
1385:
1384:
1344:
1335:
1334:
1322:
1316:
1315:
1267:
1258:
1257:
1208:
1197:
1196:
1195:
1193:
1170:
1159:
1158:
1146:
1140:
1139:
1138:
1136:
1118:"Apert Syndrome"
1113:
1107:
1106:
1105:
1103:
1080:
1074:
1073:
1071:
1069:
1055:
1046:
1045:
1033:
1027:
1026:
1014:
1005:
1004:
956:
947:
946:
940:
932:
905:
896:
895:
847:
841:
840:
800:
791:
790:
780:
740:
734:
733:
707:
683:
677:
676:
675:
673:
650:
641:
640:
628:
582:health insurance
526:craniosynostosis
520:Craniosynostosis
471:A related term,
464:
429:Crouzon syndrome
413:
248:progenitor cells
155:craniosynostosis
116:craniosynostosis
95:Craniosynostosis
87:craniosynostosis
71:Medical genetics
55:
35:
21:
3010:
3009:
3005:
3004:
3003:
3001:
3000:
2999:
2980:
2979:
2978:
2973:
2946:Marfan syndrome
2930:Keutel syndrome
2918:CHARGE syndrome
2902:Fraser syndrome
2860:
2859:Combined/other,
2854:
2833:
2829:Weaver syndrome
2770:
2700:
2696:Turner syndrome
2681:Seckel syndrome
2666:Noonan syndrome
2627:
2547:
2541:
2511:
2506:
2505:
2482:
2481:
2421:
2395:
2390:
2389:
2379:
2377:
2369:
2368:
2364:
2352:
2347:
2346:
2339:
2329:
2327:
2319:
2318:
2314:
2304:
2302:
2294:
2293:
2289:
2279:
2277:
2269:
2268:
2261:
2251:
2249:
2241:
2240:
2236:
2184:
2183:
2179:
2169:
2167:
2159:
2158:
2154:
2144:
2142:
2134:
2133:
2129:
2119:
2118:
2111:
2101:
2099:
2091:
2090:
2083:
2031:
2030:
2026:
2017:
2015:
2013:
1988:
1987:
1983:
1973:
1971:
1963:
1962:
1951:
1909:
1908:
1904:
1894:
1892:
1884:
1883:
1876:
1866:
1864:
1856:
1855:
1851:
1801:
1800:
1796:
1746:
1745:
1738:
1686:
1685:
1681:
1628:
1627:
1623:
1572:
1571:
1567:
1525:
1524:
1517:
1455:
1454:
1450:
1396:
1395:
1388:
1346:
1345:
1338:
1324:
1323:
1319:
1269:
1268:
1261:
1218:Nature Genetics
1210:
1209:
1200:
1191:
1189:
1172:
1171:
1162:
1148:
1147:
1143:
1134:
1132:
1115:
1114:
1110:
1101:
1099:
1082:
1081:
1077:
1067:
1065:
1057:
1056:
1049:
1035:
1034:
1030:
1016:
1015:
1008:
958:
957:
950:
933:
921:
907:
906:
899:
849:
848:
844:
802:
801:
794:
742:
741:
737:
685:
684:
680:
671:
669:
652:
651:
644:
630:
629:
612:
607:
590:
561:
543:
522:
517:
499:classification
492:classification
469:
468:
467:
418:
417:
416:
366:
340:genetic testing
332:
296:
291:
272:assisted living
267:
197:
180:
178:Characteristics
171:
131:
99:Cranial sutures
33:
28:
23:
22:
15:
12:
11:
5:
3008:
3006:
2998:
2997:
2992:
2990:Genodermatoses
2982:
2981:
2975:
2974:
2972:
2971:
2970:
2969:
2967:Fryns syndrome
2961:
2949:
2937:
2921:
2905:
2889:
2877:
2864:
2862:
2856:
2855:
2853:
2852:
2847:
2841:
2839:
2835:
2834:
2832:
2831:
2826:
2821:
2819:Sotos syndrome
2816:
2811:
2806:
2801:
2796:
2791:
2786:
2780:
2778:
2772:
2771:
2769:
2768:
2767:
2766:
2761:
2756:
2751:
2736:
2731:
2726:
2721:
2716:
2710:
2708:
2702:
2701:
2699:
2698:
2693:
2688:
2683:
2678:
2673:
2668:
2663:
2658:
2653:
2648:
2643:
2637:
2635:
2629:
2628:
2626:
2625:
2624:
2623:
2618:
2613:
2608:
2603:
2595:
2594:
2593:
2588:
2583:
2578:
2573:
2568:
2566:Apert syndrome
2557:
2555:
2549:
2548:
2542:
2540:
2539:
2532:
2525:
2517:
2508:
2507:
2504:
2503:
2491:
2490:
2488:
2484:
2483:
2480:
2479:
2468:
2453:
2438:
2422:
2417:
2416:
2414:
2413:Classification
2407:
2406:
2394:
2393:External links
2391:
2388:
2387:
2362:
2337:
2312:
2287:
2259:
2234:
2197:(5): 393â396.
2177:
2152:
2127:
2109:
2081:
2024:
2011:
1981:
1949:
1922:(2): 179â181.
1902:
1874:
1849:
1794:
1736:
1679:
1648:10.1086/518047
1621:
1580:Human Genetics
1565:
1515:
1448:
1409:(3): 399â401.
1386:
1359:(2): 311â324.
1336:
1317:
1282:(3): 361â368.
1259:
1224:(2): 165â172.
1198:
1160:
1141:
1108:
1075:
1047:
1028:
1006:
971:(4): 972â982.
948:
919:
897:
862:(3): 203â212.
842:
792:
755:(8): 817â824.
735:
698:(4): 472â485.
678:
642:
609:
608:
606:
603:
602:
601:
596:
589:
586:
560:
557:
553:Apert syndrome
542:
539:
521:
518:
516:
513:
512:
511:
508:
502:
501:
500:
493:
480:
465:
459:
458:
457:
456:
455:
454:
445:
442:
441:
440:
431:
425:
423:Apert syndrome
414:
408:
407:
384:(ASC type I),
365:
362:
331:
328:
295:
292:
290:
287:
266:
263:
196:
193:
185:fibrous joints
179:
176:
170:
167:
163:Apert syndrome
130:
127:
81:is a group of
74:
73:
68:
62:
61:
57:
56:
48:
47:
44:
40:
39:
31:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
3007:
2996:
2995:Rare diseases
2993:
2991:
2988:
2987:
2985:
2968:
2965:
2964:
2962:
2959:
2955:
2954:
2950:
2947:
2943:
2942:
2938:
2935:
2931:
2927:
2926:
2922:
2919:
2915:
2911:
2910:
2906:
2903:
2899:
2898:
2894:
2890:
2887:
2883:
2882:
2878:
2875:
2871:
2870:
2866:
2865:
2863:
2857:
2851:
2848:
2846:
2843:
2842:
2840:
2836:
2830:
2827:
2825:
2822:
2820:
2817:
2815:
2812:
2810:
2807:
2805:
2802:
2800:
2797:
2795:
2792:
2790:
2787:
2785:
2782:
2781:
2779:
2777:
2773:
2765:
2762:
2760:
2757:
2755:
2752:
2750:
2747:
2746:
2744:
2740:
2737:
2735:
2732:
2730:
2727:
2725:
2722:
2720:
2717:
2715:
2712:
2711:
2709:
2707:
2703:
2697:
2694:
2692:
2689:
2687:
2684:
2682:
2679:
2677:
2674:
2672:
2669:
2667:
2664:
2662:
2659:
2657:
2654:
2652:
2649:
2647:
2644:
2642:
2639:
2638:
2636:
2634:
2633:Short stature
2630:
2622:
2619:
2617:
2614:
2612:
2609:
2607:
2604:
2602:
2599:
2598:
2596:
2592:
2589:
2587:
2584:
2582:
2579:
2577:
2574:
2572:
2569:
2567:
2564:
2563:
2562:
2559:
2558:
2556:
2554:
2550:
2545:
2538:
2533:
2531:
2526:
2524:
2519:
2518:
2515:
2502:
2498:
2497:
2493:
2492:
2489:
2485:
2478:
2474:
2473:
2469:
2467:
2463:
2462:
2458:
2454:
2452:
2448:
2447:
2443:
2439:
2437:
2433:
2432:
2428:
2424:
2423:
2420:
2415:
2411:
2404:
2400:
2397:
2396:
2392:
2376:
2372:
2366:
2363:
2358:
2351:
2344:
2342:
2338:
2326:
2322:
2316:
2313:
2301:
2297:
2291:
2288:
2276:
2272:
2266:
2264:
2260:
2248:
2244:
2238:
2235:
2230:
2226:
2221:
2216:
2212:
2208:
2204:
2200:
2196:
2192:
2188:
2181:
2178:
2166:
2162:
2156:
2153:
2141:
2137:
2131:
2128:
2123:
2116:
2114:
2110:
2098:
2094:
2088:
2086:
2082:
2077:
2073:
2068:
2063:
2059:
2055:
2051:
2047:
2044:(10): e3204.
2043:
2039:
2035:
2028:
2025:
2014:
2008:
2004:
2000:
1996:
1992:
1985:
1982:
1970:
1966:
1960:
1958:
1956:
1954:
1950:
1945:
1941:
1937:
1933:
1929:
1925:
1921:
1917:
1913:
1906:
1903:
1891:
1887:
1881:
1879:
1875:
1863:
1859:
1853:
1850:
1845:
1841:
1837:
1833:
1829:
1825:
1821:
1817:
1813:
1809:
1805:
1798:
1795:
1790:
1786:
1782:
1778:
1774:
1770:
1766:
1762:
1758:
1754:
1750:
1743:
1741:
1737:
1732:
1728:
1724:
1720:
1716:
1712:
1707:
1702:
1698:
1694:
1690:
1683:
1680:
1675:
1671:
1666:
1661:
1657:
1653:
1649:
1645:
1641:
1637:
1633:
1625:
1622:
1617:
1613:
1609:
1605:
1601:
1597:
1593:
1589:
1585:
1581:
1577:
1569:
1566:
1561:
1557:
1553:
1549:
1545:
1541:
1537:
1533:
1529:
1522:
1520:
1516:
1511:
1507:
1502:
1497:
1493:
1489:
1484:
1479:
1475:
1471:
1467:
1463:
1459:
1452:
1449:
1444:
1440:
1435:
1430:
1426:
1422:
1417:
1412:
1408:
1404:
1400:
1393:
1391:
1387:
1382:
1378:
1374:
1370:
1366:
1362:
1358:
1354:
1350:
1343:
1341:
1337:
1332:
1328:
1321:
1318:
1313:
1309:
1305:
1301:
1297:
1293:
1289:
1285:
1281:
1277:
1273:
1266:
1264:
1260:
1255:
1251:
1247:
1243:
1239:
1235:
1231:
1227:
1223:
1219:
1215:
1207:
1205:
1203:
1199:
1188:
1184:
1180:
1176:
1169:
1167:
1165:
1161:
1156:
1152:
1145:
1142:
1131:
1127:
1123:
1119:
1112:
1109:
1098:
1094:
1090:
1086:
1079:
1076:
1064:
1060:
1054:
1052:
1048:
1043:
1039:
1032:
1029:
1024:
1020:
1013:
1011:
1007:
1002:
998:
994:
990:
986:
982:
978:
974:
970:
966:
962:
955:
953:
949:
944:
938:
930:
926:
922:
920:0-19-511843-X
916:
912:
911:
904:
902:
898:
893:
889:
885:
881:
877:
873:
869:
865:
861:
857:
853:
846:
843:
838:
834:
830:
826:
822:
818:
814:
810:
806:
799:
797:
793:
788:
784:
779:
774:
770:
766:
762:
758:
754:
750:
746:
739:
736:
731:
727:
723:
719:
715:
711:
706:
701:
697:
693:
689:
682:
679:
668:
664:
660:
656:
649:
647:
643:
638:
634:
627:
625:
623:
621:
619:
617:
615:
611:
604:
600:
597:
595:
592:
591:
587:
585:
583:
579:
578:financial aid
575:
571:
567:
558:
556:
554:
549:
547:
540:
538:
535:
531:
530:brachycephaly
527:
519:
514:
509:
507:
503:
498:
494:
491:
487:
486:
485:
481:
478:
477:
476:
474:
463:
452:
451:
450:
446:
443:
438:
437:
436:
432:
430:
426:
424:
420:
419:
412:
406:
404:
400:
398:
393:
391:
387:
383:
379:
375:
370:
363:
361:
359:
358:
353:
352:
347:
346:
341:
337:
329:
327:
325:
321:
317:
313:
309:
308:amniocentesis
304:
300:
293:
288:
286:
284:
279:
277:
273:
264:
262:
260:
256:
251:
249:
245:
244:organogenesis
241:
237:
236:
231:
230:
225:
223:
217:
215:
210:
206:
202:
194:
192:
190:
186:
177:
175:
168:
166:
164:
160:
156:
152:
148:
144:
140:
136:
128:
126:
123:
121:
117:
113:
108:
104:
100:
96:
92:
88:
84:
80:
72:
69:
67:
63:
58:
54:
49:
45:
41:
36:
30:
19:
2951:
2939:
2923:
2907:
2891:
2879:
2867:
2739:Gastrulation
2560:
2553:Craniofacial
2494:
2470:
2455:
2440:
2425:
2378:. Retrieved
2374:
2365:
2357:the original
2328:. Retrieved
2324:
2315:
2303:. Retrieved
2299:
2290:
2278:. Retrieved
2274:
2250:. Retrieved
2246:
2237:
2194:
2190:
2180:
2168:. Retrieved
2164:
2155:
2143:. Retrieved
2139:
2130:
2121:
2100:. Retrieved
2096:
2041:
2037:
2027:
2016:, retrieved
1994:
1984:
1972:. Retrieved
1968:
1919:
1915:
1905:
1893:. Retrieved
1889:
1865:. Retrieved
1861:
1852:
1811:
1807:
1797:
1756:
1752:
1696:
1692:
1682:
1639:
1635:
1624:
1586:(1): 68â76.
1583:
1579:
1568:
1535:
1531:
1465:
1461:
1451:
1406:
1402:
1356:
1352:
1330:
1320:
1279:
1275:
1221:
1217:
1190:, retrieved
1179:GeneReviewsÂź
1178:
1154:
1144:
1133:, retrieved
1121:
1111:
1100:, retrieved
1088:
1078:
1066:. Retrieved
1062:
1044:: 1310â1330.
1041:
1037:
1031:
1022:
1018:
968:
964:
909:
859:
855:
845:
815:(1): 82â96.
812:
808:
752:
748:
738:
695:
691:
681:
670:, retrieved
658:
636:
570:universities
562:
550:
544:
534:Cranioplasty
523:
472:
470:
402:
401:
394:
371:
367:
355:
349:
343:
336:radiographic
333:
297:
280:
268:
252:
239:
233:
228:
221:
213:
198:
181:
172:
151:EugĂšne Apert
146:
142:
141:âheadâ, ÏÏÎœ
138:
134:
132:
124:
78:
77:
29:
2861:known locus
2759:Sirenomelia
504:type III â
433:type III â
107:polydactyly
43:Other names
2984:Categories
2754:Ectromelia
2380:5 November
2330:4 December
2305:4 December
2280:4 December
2252:4 December
2170:5 November
2145:5 November
2102:5 November
2018:5 November
1974:4 December
1895:5 November
1867:4 December
1538:(1): 5â9.
1192:4 December
1135:4 December
1122:StatPearls
1102:4 December
1089:StatPearls
1068:4 December
1025:: 238â241.
672:4 December
659:StatPearls
605:References
599:Oxycephaly
566:caregivers
559:Management
546:Syndactyly
541:Syndactyly
482:type II â
427:type II â
324:ultrasound
255:penetrance
169:Prevalence
159:syndactyly
147:(daktylos)
120:syndactyly
103:Syndactyly
91:syndactyly
2963:Multiple
2546:syndromes
2211:0022-2593
2058:2169-7574
1828:0032-1052
1773:0032-1052
1715:1058-8388
1656:0002-9297
1600:1432-1203
1552:0148-7299
1492:0027-8424
1425:1658-354X
1373:0148-7299
1296:1049-2275
1238:1546-1718
985:0032-1052
937:cite book
876:0009-9163
829:0148-7299
769:1476-5438
714:1058-8388
515:Treatment
447:type V â
421:type I â
320:endoscope
316:fetoscopy
289:Diagnosis
139:(kephaláž)
66:Specialty
2743:mesoderm
2606:Cyclopia
2496:Orphanet
2325:omim.org
2300:omim.org
2275:omim.org
2247:omim.org
2165:omim.org
2140:omim.org
2097:omim.org
2076:33173703
1969:omim.org
1936:15996217
1844:59225959
1836:30676503
1789:45847015
1781:23018718
1731:52815441
1723:30251381
1674:17503333
1616:20929600
1608:14513358
1443:25191197
1312:23327865
1304:15915098
1254:12423131
1187:20301368
1130:30085535
1097:30422477
1063:omim.org
1001:51614940
993:29994846
929:41528658
892:22412404
884:24020795
787:22333904
722:11084647
667:30252267
588:See also
390:Pfeiffer
276:epilepsy
216:variants
211:manner.
2477:D000168
2229:8064818
2220:1049872
2067:7647527
1944:1652216
1665:1867103
1560:7065003
1510:8755573
1470:Bibcode
1434:4141395
1381:3322002
1246:7719344
837:7645606
778:3400728
730:8801611
405:(ACS):
386:Crouzon
360:genes.
257:with a
232:, and
214:De-novo
129:History
2597:Other
2466:755.55
2436:LD24.G
2405:(MeSH)
2227:
2217:
2209:
2074:
2064:
2056:
2009:
1942:
1934:
1842:
1834:
1826:
1787:
1779:
1771:
1729:
1721:
1713:
1672:
1662:
1654:
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1558:
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354:, and
351:TWIST1
229:TWIST1
135:ĂĄkros)
2706:Limbs
2451:Q87.0
2353:(PDF)
1940:S2CID
1840:S2CID
1785:S2CID
1727:S2CID
1612:S2CID
1501:38845
1308:S2CID
1250:S2CID
997:S2CID
888:S2CID
726:S2CID
382:Apert
357:RAB23
235:RAB23
195:Cause
189:heart
143:(syn)
2472:MeSH
2461:9-CM
2382:2022
2332:2023
2307:2023
2282:2023
2254:2023
2225:PMID
2207:ISSN
2172:2022
2147:2022
2104:2022
2072:PMID
2054:ISSN
2020:2022
2007:ISBN
1976:2023
1932:PMID
1897:2022
1869:2023
1832:PMID
1824:ISSN
1777:PMID
1769:ISSN
1719:PMID
1711:ISSN
1670:PMID
1652:ISSN
1604:PMID
1596:ISSN
1556:PMID
1548:ISSN
1506:PMID
1488:ISSN
1439:PMID
1421:ISSN
1377:PMID
1369:ISSN
1300:PMID
1292:ISSN
1242:PMID
1234:ISSN
1194:2023
1183:PMID
1137:2023
1126:PMID
1104:2023
1093:PMID
1070:2023
989:PMID
981:ISSN
943:link
925:OCLC
915:ISBN
880:PMID
872:ISSN
833:PMID
825:ISSN
783:PMID
765:ISSN
718:PMID
710:ISSN
674:2023
663:PMID
345:FGFR
222:FGFR
157:and
118:and
2501:946
2457:ICD
2442:ICD
2427:ICD
2215:PMC
2199:doi
2062:PMC
2046:doi
1999:doi
1924:doi
1816:doi
1812:143
1761:doi
1757:130
1701:doi
1697:247
1660:PMC
1644:doi
1588:doi
1584:114
1540:doi
1496:PMC
1478:doi
1429:PMC
1411:doi
1361:doi
1284:doi
1226:doi
973:doi
969:142
864:doi
817:doi
773:PMC
757:doi
700:doi
696:219
572:or
240:FGF
226:,
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