84:
559:
However, some guidelines can be given depending on the severity of the deformities. In general it is initially recommended to release the first and fourth interdigital spaces, thus releasing the border rays. This makes it possible for the child to grasp things by hand, a very important function for the child's development. Later the second and third interdigital spaces have to be released. Because there are three handtypes in Apert, all with their own deformities, they all need a different approach regarding their treatment:
284:
60:
410:
571:
web space, lengthening of the thumb can be done. It is suggested that in severe cases an amputation of the index finger should be considered. However, before making this decision, it is important to weigh the potential improvement to be achieved against the possible psychological problems of the child later due to the aesthetics of the hand. Later, the second and/or third interdigital web space should be released.
275:
sutures, increased cranial pressure can develop, leading to mental deficiency. A flat or concave face may develop as a result of deficient growth in the mid-facial bones, leading to a condition known as pseudomandibular prognathism. Other features of acrocephalosyndactyly may include shallow bony orbits and broadly spaced eyes. Low-set ears are also a typical characteristic of branchial arch syndromes.
255:
570:
Type III hands are the most challenging to treat because of their complexity. First of all, it is advised to release the first and fourth webspace, thus converting it to type I hand. The treatment of macerations and nail-bed infections should also be done in the beginning. For increasing of the first
566:
In type II hands it is recommended to release the first and fifth rays in the beginning, then the second and the third interdigital web spaces have to be freed. The clinodactyly of the thumb has to be corrected as well. The lengthening of the thumb phalanx may be needed, thus increasing the first web
436:
has been described in two patients with Apert syndrome by Herman T.E. et al. (USA, 2010) and by Ercoli G. et al. (Argentina, 2014). An omphalocele is a birth defect in which an intestine or other abdominal organs are outside of the body of an infant because of a hole in the bellybutton area. However,
331:
Type III: Also called the "hoof" or "rosebud" hand. This is the most uncommon but also most severe form of hand deformity in Apert syndrome. There is a solid osseous or cartilaginous fusion of all digits with one long, conjoined nail. The thumb is turned inwards and it is often impossible to tell the
323:
but is separated from the index finger. The index, long and ring finger are fused together in the distal interphalangeal joints and form a flat palm. During the embryonic stage, the fusion has no effect on the longitudinal growth of these fingers, so they have a normal length. In the fourth webspace,
240:
of the syndrome in the population have varied, with estimates as low as 1 birth in 200,000 provided and 160,000 given as an average by older studies. A study conducted in 1997, however, by the
California Birth Defects Monitoring Program found an incidence rate of 1 in 80,645 out of almost 2.5 million
472:
gene, which causes a Ser to Trp change in the protein. This is a male-specific mutation hotspot: in a study of 57 cases, the mutation always occurred on the paternally derived allele. On the basis of the observed birth prevalence of the disease (1 in 70,000), the apparent rate of C to G mutations at
327:
Type II: Also called a "spoon" or "mitten" hand. This is a more serious anomaly since the thumb is fused to the index finger by simple complete or incomplete syndactyly. Only the distal phalanx of the thumb is not joined in the osseous union with the index finger and has a separate nail. Because the
558:
There is no standard treatment for the hand malformations in Apert due to the differences and severity in clinical manifestations in different patients. Every patient should therefore be individually approached and treated, aiming at an adequate balance between hand functionality and aesthetics.
291:
All acrocephalosyndactyly syndromes show some level of limb anomalies, so it can be hard to tell them apart. However, the typical hand deformities in patients with Apert syndrome distinguish it from the other syndromes. The hands in patients with Apert syndrome always show four common features:
274:
close prematurely, preventing the skull from expanding frontward or backward and causing the brain to expand the skull to the sides and upwards. This results in another common characteristic, a high, prominent forehead with a flat back of the skull. Due to the premature closing of the coronal
549:
which detaches the midface or the entire upper face, respectively, from the rest of the skull, are performed in order to reposition them in the correct plane. These surgeries are performed by both plastic and oral and maxillofacial (OMS) surgeons, often in collaboration.
477:. Goriely et al. (2003) analyzed the allelic distribution of mutations in sperm samples from men of different ages and concluded that the simplest explanation for the data is that the C to G mutation gives the cell an advantage in the male germline.
1247:
Britto, J A; J C T Chan; R D Evans; R D Hayward; B M Jones (May 2001). "Differential expression of fibroblast growth factor receptors in human digital development suggests common pathogenesis in complex acrosyndactyly and craniosynostosis".
1073:
Wilkie, A O; S F Slaney; M Oldridge; M D Poole; G J Ashworth; A D Hockley; R D Hayward; D J David; L J Pulleyn; P Rutland (February 1995). "Apert syndrome results from localized mutations of FGFR2 and is allelic with
Crouzon syndrome".
500:. The point mutation increases the ligand-dependent activation of FGFR2 and thus of its isoforms. This means that FGFR2 loses its specificity, causing binding of FGFs that normally do not bind to the receptor. Since FGF suppresses
1506:
1491:
454:. The offspring of a parent with Apert syndrome has a 50% chance of inheriting the condition. In 1995, A.O.M. Wilkie published a paper showing evidence that acrocephalosyndactyly is caused by a defect on the
567:
space. In both type I and type II, the recurrent syndactyly of the second web space will occur because of a pseudoepiphysis at the base of the index metacarpal. This should be corrected by later revisions.
449:
disorder. Males and females are affected equally; however research is yet to determine an exact cause. Nonetheless, almost all cases are sporadic, signifying fresh mutations or environmental insult to the
480:
It is still not very clear why people with Apert syndrome have both craniosynostosis and syndactyly. There has been one study that suggests it has something to do with the expression of three
563:
Type I hand usually needs only the interdigital web space release. First web release is rarely needed but often its deepening is necessary. Thumb clinodactyly correction will be needed.
332:
fingers apart. Usually proper imaging of the hand is very difficult, due to overlap of bones, but physical examination alone is not enough to measure the severity of deformation.
315:
The deformity of the space between the index finger and the thumb may be variable. Based on this first webspace, three different types of hand deformation can be diffentiated:
418:
168:, causing separation of the digits. In the case of acrocephalosyndactyly, selective cell death does not occur and skin, and rarely bone, between the fingers and toes fuses.
2106:
328:
fusion of the digits is at the level of the distal interphalangeal joints, a concave palm is formed. Most of the time, we see complete syndactyly of the fourth webspace.
1639:
241:
live births. Another study conducted in 2002 by the
Craniofacial Center, North Texas Hospital for Children, found a higher incidence of about 1 in 65,000 live births.
2598:
473:
this site is about .00005, which is 200- to 800-fold higher than the usual rate for mutations at CG dinucleotides. Moreover, the incidence rises sharply with the
1153:
Goriely, A.; McVean, GA; Röjmyr, M; Ingemarsson, B; Wilkie, AO (2003). "Evidence for
Selective Advantage of Pathogenic FGFR2 Mutations in the Male Germ Line".
2815:
306:
1204:
Moloney, DM; Slaney, SF; Oldridge, M; Wall, SA; Sahlin, P; Stenman, G; Wilkie, AO (1996). "Exclusive paternal origin of new mutations in Apert syndrome".
2734:
2911:
2454:
2099:
2158:
135:, a French physician, described nine people sharing similar attributes and characteristics. Linguistically, in the term "acrocephalosyndactyly",
468:
Apert syndrome is an autosomal dominant disorder; approximately two-thirds of the cases are due to a C to G mutation at the position 755 in the
1632:
575:
With growing of a child and respectively the hands, secondary revisions are needed to treat the contractures and to improve the aesthetics.
2199:
542:
2896:
2615:
2092:
2611:
2183:
116:
characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first
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2640:
2515:
1888:
1625:
2481:
2266:
629:
609:
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Surgery is needed to prevent the closing of the coronal sutures from damaging brain development. In particular, surgeries for the
2700:
2243:
2194:
1695:
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Type I: Also called a "spade hand". The most common and least severe type of deformation. The thumb shows radial deviation and
2652:
2519:
1690:
820:
737:
2495:
508:, thus early fusion of several sutures of the skull. This may explain why both symptoms are always found in Apert syndrome.
2840:
2755:
2717:
2312:
2289:
17:
2408:
2380:
2364:
1521:
455:
861:
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that causes the syndrome in 98% of the patients. KGFR, keratinocyte growth factor receptor, is an isoform active in the
2901:
1790:
2490:
128:. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects.
2827:
2603:
2163:
1468:
1903:
1828:
2688:
2676:
1928:
1038:
Ercoli, G; Bidondo, MP; Senra, BC; Groisman, B (September 2014). "Apert syndrome with omphalocele: a case report".
437:
the association between omphalocele and Apert syndrome is not confirmed yet, so additional studies are necessary.
2875:
2805:
2558:
2171:
1893:
675:
Fearon, Jeffrey A. (July 2003). "Treatment of the Hands and Feet in Apert
Syndrome: An Evolution in Management".
521:
2626:
2470:
2442:
2231:
1990:
1291:
Hajihosseini MK, Duarte R, Pegrum J, Donjacour A, Lana-Elola E, Rice DP, Sharpe J, Dickson C (February 2009).
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occurs, in which the cranial sutures close too soon, though the child's brain is still growing and expanding.
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1838:
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1898:
1795:
1685:
602:
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2018:
1810:
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2401:
2389:
2124:
1954:
1853:
1760:
1750:
1705:
1605:
1293:"Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model"
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2238:
2219:
2151:
1949:
1833:
2581:
2533:
2343:
2284:
1908:
1745:
1657:
1532:
546:
504:, the interdigital mesenchyme is maintained. FGF also increases replication and differentiation of
237:
83:
954:
Upton, J (April 1991). "Apert
Syndrome. Classification and pathologic anatomy of limb anomalies".
2921:
2906:
2586:
2421:
1818:
1340:
911:
Kaplan, L C (April 1991). "Clinical assessment and multispecialty management of Apert syndrome".
779:
754:
496:. FGFR2-Bek is active in the metaphysis, as well as the diaphysis, but also in the interdigital
164:, the hands and feet have selective cells that die in a process called selective cell death, or
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2167:
1823:
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1583:
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2187:
2115:
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2029:
2001:
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1665:
727:
109:
2215:
2146:
2013:
1997:
1985:
1973:
1162:
516:
Diagnosis is typically by the apparent physical characteristics and can be aided by skull
8:
2529:
2525:
2206:
1880:
1868:
1510:
1341:"Apert syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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113:
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72:
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77:
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The cranial malformations are the most apparent effects of acrocephalosyndactyly.
2425:
2050:
2034:
2022:
2006:
1933:
1800:
1785:
1770:
1537:
1365:
Zucker, R M (April 1991). "Syndactyly correction of the hand in Apert syndrome".
729:
Education of
Students with an Intellectual Disability: Research and Practice (PB)
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117:
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1923:
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Common relevant features of acrocephalosyndactyly are a high-arched palate,
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1182:
1130:
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1024:
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320:
143:
for "peak", referring to the "peaked" head that is common in the syndrome;
1394:
1225:
1095:
983:
940:
1863:
1578:
1408:
Braun, Tara L.; Trost, Jeffrey G.; Pederson, William C. (November 2016).
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505:
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422:
1469:
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1858:
1309:
1292:
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1051:
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998:
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230:
161:
153:
1483:
1217:
1117:
Conrady, Christopher D.; Patel, Bhupendra C.; Sharma, Sandeep (2022),
193:
leads to different patterns of growth on the skull. Examples include:
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1589:
1554:
501:
493:
165:
1246:
2801:
2635:
2507:
1847:
1710:
1600:
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481:
258:
Apert syndrome in a 5-year-old boy, showing characteristic features
1559:
1290:
812:
An A-Z of
Genetic Factors in Autism: A Handbook for Professionals
324:
we always see a simple syndactyly, either complete or incomplete.
121:
1526:
1040:
Birth
Defects Research Part A: Clinical and Molecular Teratology
2847:
2553:
2511:
1495:
451:
185:
1152:
632:. Genetic and Rare Diseases Information Center. Archived from
492:
and interphalangeal joints. FGFR1 is an isoform active in the
95:
Genetic mutations; C to G mutation at the position 755 in the
2859:
2835:
2461:
2261:
2226:
777:
469:
96:
31:
254:
2822:
2746:
2722:
2352:
2307:
458:
183:
occurs when the fetal skull and facial bones fuse too soon
1037:
233:
or turricephaly (fusion of coronal and lambdoid sutures).
1203:
2114:
2816:
Junctional epidermolysis bullosa with pyloric atresia
189:, disrupting normal bone growth. Fusion of different
1647:
1473:
384:Tight fusion of all digits with one conjoined nail
171:The cranial bones are affected as well, similar to
1407:
1116:
2888:
2455:Congenital insensitivity to pain with anhidrosis
1125:, Treasure Island (FL): StatPearls Publishing,
841:NORD (National Organization for Rare Disorders)
425:), a narrow palate and crowding of the teeth.
2100:
1633:
887:"Apert Syndrome | Boston Children's Hospital"
2200:Gonadotropin-releasing hormone insensitivity
1284:
996:
2616:Congenital amegakaryocytic thrombocytopenia
381:Fusion of fingertops forming a concave palm
270:is the common pattern of growth, where the
27:Congenital disorder of the skull and digits
2701:Autoimmune lymphoproliferative syndrome 1A
2184:Follicle-stimulating hormone insensitivity
2107:
2093:
1640:
1626:
1148:
1146:
82:
58:
2865:X-linked severe combined immunodeficiency
2641:TNF receptor associated periodic syndrome
1441:
1308:
1014:
670:
668:
2912:Hearing loss with craniofacial syndromes
778:Abe Bert Baker; Lowell H. Baker (1979).
610:Hearing loss with craniofacial syndromes
408:
311:simple syndactyly of the fourth webspace
282:
253:
2653:Selective immunoglobulin A deficiency 2
2244:Aspirin-exacerbated respiratory disease
1197:
1143:
997:Herman, TE; Siegel, MJ (October 2010).
790:. Medical Dept., Harper & Row: 47.
725:
157:refers to webbing of fingers and toes.
14:
2889:
2828:EDAR hypohidrotic ectodermal dysplasia
2756:Familial exudative vitreoretinopathy 4
2313:Familial exudative vitreoretinopathy 1
1364:
910:
808:
752:
674:
665:
404:
287:Hand in Apert syndrome with syndactyly
2520:Hereditary hemorrhagic telangiectasia
2496:Persistent MĂĽllerian duct syndrome II
2267:Jansen's metaphyseal chondrodysplasia
2088:
1621:
953:
756:Medical aspects of mental retardation
536:
244:
2841:Nevoid basal-cell carcinoma syndrome
2290:Familial hypocalciuric hypercalcemia
630:"Apert syndrome – About the Disease"
413:Teeth of a child with Apert syndrome
2604:Surfactant metabolism dysfunction 4
456:fibroblast growth factor receptor 2
296:a short thumb with radial deviation
249:
24:
2897:Cell surface receptor deficiencies
2853:BMPR1A juvenile polyposis syndrome
2774:LDLR Familial hypercholesterolemia
1250:Plastic and Reconstructive Surgery
689:10.1097/01.PRS.0000065908.60382.17
677:Plastic and Reconstructive Surgery
584:Other craniosynostosis syndromes:
378:Side-to-side fusion with flat palm
303:of the index, long and ring finger
25:
2933:
2164:Luteinizing hormone insensitivity
1889:Bannayan–Riley–Ruvalcaba syndrome
1462:
999:"Apert syndrome with omphalocele"
815:. Jessica Kingsley. p. 133.
2232:Nephrogenic diabetes insipidus 1
1262:10.1097/00006534-200105000-00001
445:Acrocephalosyndactyly may be an
392:Simple and incomplete syndactyly
2172:Male-limited precocious puberty
1401:
1358:
1333:
1240:
1110:
1066:
1031:
990:
947:
904:
879:
553:
398:Simple and complete syndactyly
67:Woman with Apert syndrome, 1914
2559:Leber's congenital amaurosis 1
2471:Gastrointestinal stromal tumor
1696:Bonnet–Dechaume–Blanc syndrome
854:
829:
802:
771:
746:
719:
648:
622:
428:
395:Simple and complete syndactyly
118:branchial (or pharyngeal) arch
13:
1:
1691:Sakati–Nyhan–Tisdale syndrome
1379:10.1016/S0094-1298(20)30827-0
968:10.1016/S0094-1298(20)30826-9
925:10.1016/S0094-1298(20)30817-8
615:
531:
278:
53:Acrocephalo-syndactyly type 1
1929:Tatton-Brown–Rahman syndrome
1899:Benign symmetric lipomatosis
511:
484:of FGFR2, the gene with the
419:pseudomandibular prognathism
7:
2152:Congenital hypothyroidism 1
2019:Branchio-oto-renal syndrome
1894:Beckwith–Wiedemann syndrome
1414:Seminars in Plastic Surgery
809:Aitken, J. Kenneth (2010).
753:Carter, Charles H. (1965).
578:
528:can confirm the diagnosis.
10:
2938:
2811:Glanzmann's thrombasthenia
2791:Immunoglobulin superfamily
2443:Rabson–Mendenhall syndrome
2125:G protein-coupled receptor
1991:Zimmermann–Laband syndrome
1943:Laurence–Moon–Bardet–Biedl
1904:Klippel–Trénaunay syndrome
1854:Caudal regression syndrome
1829:Klippel–Trénaunay syndrome
1791:Smith–Lemli–Opitz syndrome
1761:Cornelia de Lange syndrome
1367:Clinics in Plastic Surgery
956:Clinics in Plastic Surgery
913:Clinics in Plastic Surgery
683:(1). Dallas, Texas: 1–12.
99:gene (two-thirds of cases)
29:
2902:Congenital oral disorders
2783:
2710:
2665:Hyper-IgM syndrome type 3
2625:
2572:
2543:
2480:
2342:
2326:
2299:
2276:
2253:
2138:
2123:
1963:
1942:
1879:
1839:Rubinstein–Taybi syndrome
1809:
1736:
1656:
1569:
1477:
1345:rarediseases.info.nih.gov
440:
91:
71:
66:
57:
49:
44:
2740:Cenani–Lenz syndactylism
2582:Type I cytokine receptor
2220:Hirschsprung's disease 2
1909:Neurofibromatosis type I
1796:Snyder–Robinson syndrome
1746:1q21.1 deletion syndrome
1686:Saethre–Chotzen syndrome
603:Saethre–Chotzen syndrome
547:distraction osteogenesis
147:, also from Greek, is a
2422:Thanatophoric dysplasia
2216:Waardenburg syndrome 4a
1819:Adducted thumb syndrome
1781:Silver–Russell syndrome
1175:10.1126/science.1085710
759:. Thomas. p. 358.
225:(fusion of coronal and
120:, the precursor of the
2876:cell surface receptors
2728:Donnai–Barrow syndrome
2402:Jackson–Weiss syndrome
2390:Antley–Bixler syndrome
2374:KAL2 Kallmann syndrome
2328:Enzyme-linked receptor
2168:Leydig cell hypoplasia
1955:Laurence–Moon syndrome
1751:Aarskog–Scott syndrome
1706:Baller–Gerold syndrome
1649:Congenital abnormality
1426:10.1055/s-0036-1593478
726:Foreman, Phil (2009).
423:mandibular prognathism
414:
288:
259:
30:For the mountain, see
2188:XX gonadal dysgenesis
2116:Cell surface receptor
1950:Bardet–Biedl syndrome
1834:Nail–patella syndrome
1726:Pierre Robin sequence
1666:Acrocephalosyndactyly
891:childrenshospital.org
412:
286:
257:
110:acrocephalosyndactyly
18:Apert's Syndrome
2534:Loeys–Dietz syndrome
1881:Overgrowth syndromes
1410:"Syndactyly Release"
545:or monobloc midface
375:Middle three fingers
1869:VACTERL association
1167:2003Sci...301..643G
732:. IAP. p. 30.
522:head CT examination
405:Dental significance
370:Complex syndactyly
307:symbrachyphalangism
114:congenital disorder
2504:TGF beta receptors
1824:Holt–Oram syndrome
1716:Goldenhar syndrome
1676:Carpenter syndrome
1570:External resources
1310:10.1002/dvdy.21648
1088:10.1038/ng0295-165
1052:10.1002/bdra.23270
1016:10.1038/jp.2010.72
866:GOSH Hospital site
784:Clinical Neurology
780:"Apert's Syndrome"
447:autosomal dominant
415:
289:
260:
245:Signs and symptoms
229:unilaterally) and
227:lambdoidal sutures
2917:Pharyngeal arches
2884:
2883:
2568:
2567:
2418:Hypochondroplasia
2394:Pfeiffer syndrome
2370:Pfeiffer syndrome
2322:
2321:
2082:
2081:
1979:Feingold syndrome
1766:Dubowitz syndrome
1756:Cockayne syndrome
1681:Pfeiffer syndrome
1615:
1614:
1218:10.1038/ng0596-48
822:978-1-84310-976-1
739:978-1-60752-214-0
598:Pfeiffer syndrome
475:age of the father
402:
401:
367:Simple syndactyly
364:Simple syndactyly
236:Findings for the
177:Pfeiffer syndrome
103:
102:
39:Medical condition
16:(Redirected from
2929:
2438:Donohue syndrome
2398:Crouzon syndrome
2358:Robinow syndrome
2340:
2339:
2136:
2135:
2109:
2102:
2095:
2086:
2085:
2063:Donohue syndrome
2039:Timothy syndrome
1919:Proteus syndrome
1914:Perlman syndrome
1776:Robinow syndrome
1721:Moebius syndrome
1642:
1635:
1628:
1619:
1618:
1475:
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1456:
1455:
1445:
1405:
1399:
1398:
1362:
1356:
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1312:
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1282:
1281:
1256:(6): 1331–1338.
1244:
1238:
1237:
1201:
1195:
1194:
1150:
1141:
1140:
1139:
1137:
1119:"Apert Syndrome"
1114:
1108:
1107:
1070:
1064:
1063:
1035:
1029:
1028:
1018:
994:
988:
987:
951:
945:
944:
908:
902:
901:
899:
897:
883:
877:
876:
874:
872:
862:"Apert syndrome"
858:
852:
851:
849:
847:
837:"Apert Syndrome"
833:
827:
826:
806:
800:
799:
775:
769:
768:
750:
744:
743:
723:
717:
716:
672:
663:
652:
646:
645:
643:
641:
626:
588:Crouzon syndrome
537:Craniosynostosis
336:
335:
264:Craniosynostosis
250:Craniosynostosis
181:Craniosynostosis
173:Crouzon syndrome
151:meaning "head";
87:
86:
78:Medical genetics
62:
42:
41:
21:
2937:
2936:
2932:
2931:
2930:
2928:
2927:
2926:
2887:
2886:
2885:
2880:
2784:Other/ungrouped
2779:
2760:Osteopetrosis 1
2706:
2621:
2564:
2539:
2476:
2426:Muenke syndrome
2332:
2330:
2318:
2295:
2272:
2249:
2127:
2119:
2113:
2083:
2078:
2051:Marfan syndrome
2035:Keutel syndrome
2023:CHARGE syndrome
2007:Fraser syndrome
1965:
1964:Combined/other,
1959:
1938:
1934:Weaver syndrome
1875:
1805:
1801:Turner syndrome
1786:Seckel syndrome
1771:Noonan syndrome
1732:
1652:
1646:
1616:
1611:
1610:
1565:
1564:
1486:
1465:
1460:
1459:
1406:
1402:
1363:
1359:
1349:
1347:
1339:
1338:
1334:
1289:
1285:
1245:
1241:
1206:Nature Genetics
1202:
1198:
1161:(5633): 643–6.
1151:
1144:
1135:
1133:
1115:
1111:
1076:Nature Genetics
1071:
1067:
1036:
1032:
1009:(10): 695–697.
995:
991:
952:
948:
909:
905:
895:
893:
885:
884:
880:
870:
868:
860:
859:
855:
845:
843:
835:
834:
830:
823:
807:
803:
776:
772:
751:
747:
740:
724:
720:
673:
666:
653:
649:
639:
637:
628:
627:
623:
618:
593:Muenke syndrome
581:
556:
539:
534:
526:genetic testing
514:
486:point mutations
443:
431:
407:
389:Fourth webspace
281:
272:coronal sutures
252:
247:
219:sagittal suture
217:(fusion of the
211:lambdoid suture
205:(fusion of the
197:(fusion of the
81:
40:
35:
28:
23:
22:
15:
12:
11:
5:
2935:
2925:
2924:
2922:Rare syndromes
2919:
2914:
2909:
2907:Genodermatoses
2904:
2899:
2882:
2881:
2879:
2878:
2873:
2869:
2868:
2856:
2844:
2819:
2818:
2813:
2808:
2798:
2797:
2787:
2785:
2781:
2780:
2778:
2777:
2764:
2763:
2752:Worth syndrome
2743:
2731:
2714:
2712:
2711:Lipid receptor
2708:
2707:
2705:
2704:
2692:
2680:
2668:
2656:
2644:
2631:
2629:
2623:
2622:
2620:
2619:
2608:
2607:
2595:
2592:Laron syndrome
2578:
2576:
2570:
2569:
2566:
2565:
2563:
2562:
2549:
2547:
2541:
2540:
2538:
2537:
2523:
2500:
2499:
2486:
2484:
2478:
2477:
2475:
2474:
2467:KIT Piebaldism
2458:
2446:
2440:
2429:
2414:Achondroplasia
2405:
2386:Apert syndrome
2377:
2361:
2348:
2346:
2337:
2324:
2323:
2320:
2319:
2317:
2316:
2303:
2301:
2297:
2296:
2294:
2293:
2280:
2278:
2274:
2273:
2271:
2270:
2257:
2255:
2251:
2250:
2248:
2247:
2235:
2223:
2203:
2191:
2175:
2155:
2142:
2140:
2133:
2121:
2120:
2112:
2111:
2104:
2097:
2089:
2080:
2079:
2077:
2076:
2075:
2074:
2072:Fryns syndrome
2066:
2054:
2042:
2026:
2010:
1994:
1982:
1969:
1967:
1961:
1960:
1958:
1957:
1952:
1946:
1944:
1940:
1939:
1937:
1936:
1931:
1926:
1924:Sotos syndrome
1921:
1916:
1911:
1906:
1901:
1896:
1891:
1885:
1883:
1877:
1876:
1874:
1873:
1872:
1871:
1866:
1861:
1856:
1841:
1836:
1831:
1826:
1821:
1815:
1813:
1807:
1806:
1804:
1803:
1798:
1793:
1788:
1783:
1778:
1773:
1768:
1763:
1758:
1753:
1748:
1742:
1740:
1734:
1733:
1731:
1730:
1729:
1728:
1723:
1718:
1713:
1708:
1700:
1699:
1698:
1693:
1688:
1683:
1678:
1673:
1671:Apert syndrome
1662:
1660:
1654:
1653:
1645:
1644:
1637:
1630:
1622:
1613:
1612:
1609:
1608:
1597:
1586:
1574:
1573:
1571:
1567:
1566:
1563:
1562:
1551:
1540:
1529:
1518:
1503:
1487:
1482:
1481:
1479:
1478:Classification
1472:
1471:
1464:
1463:External links
1461:
1458:
1457:
1420:(4): 162–170.
1400:
1357:
1332:
1283:
1239:
1196:
1142:
1109:
1065:
1046:(9): 726–729.
1030:
989:
946:
903:
878:
853:
828:
821:
801:
770:
745:
738:
718:
664:
647:
636:on 18 May 2019
620:
619:
617:
614:
613:
612:
607:
606:
605:
600:
595:
590:
580:
577:
573:
572:
568:
564:
555:
552:
538:
535:
533:
530:
513:
510:
442:
439:
430:
427:
421:(appearing as
406:
403:
400:
399:
396:
393:
390:
386:
385:
382:
379:
376:
372:
371:
368:
365:
362:
361:First webspace
358:
357:
351:
345:
339:
334:
333:
329:
325:
313:
312:
309:
304:
297:
280:
277:
251:
248:
246:
243:
215:dolichocephaly
213:bilaterally),
207:coronal suture
199:metopic suture
195:trigonocephaly
149:combining form
106:Apert syndrome
101:
100:
93:
89:
88:
75:
69:
68:
64:
63:
55:
54:
51:
47:
46:
45:Apert syndrome
38:
26:
9:
6:
4:
3:
2:
2934:
2923:
2920:
2918:
2915:
2913:
2910:
2908:
2905:
2903:
2900:
2898:
2895:
2894:
2892:
2877:
2874:
2871:
2870:
2866:
2862:
2861:
2857:
2854:
2850:
2849:
2845:
2842:
2838:
2837:
2833:
2832:
2831:
2829:
2825:
2824:
2817:
2814:
2812:
2809:
2807:
2803:
2800:
2799:
2796:
2792:
2789:
2788:
2786:
2782:
2775:
2771:
2770:
2766:
2765:
2761:
2757:
2753:
2749:
2748:
2744:
2741:
2737:
2736:
2732:
2729:
2725:
2724:
2719:
2716:
2715:
2713:
2709:
2702:
2698:
2697:
2693:
2690:
2686:
2685:
2681:
2678:
2674:
2673:
2669:
2666:
2662:
2661:
2657:
2654:
2650:
2649:
2645:
2642:
2638:
2637:
2633:
2632:
2630:
2628:
2624:
2617:
2613:
2610:
2609:
2605:
2601:
2600:
2596:
2593:
2589:
2588:
2583:
2580:
2579:
2577:
2575:
2571:
2560:
2556:
2555:
2551:
2550:
2548:
2546:
2542:
2535:
2531:
2527:
2524:
2521:
2517:
2513:
2509:
2505:
2502:
2501:
2497:
2493:
2492:
2488:
2487:
2485:
2483:
2479:
2472:
2468:
2464:
2463:
2459:
2456:
2452:
2451:
2447:
2444:
2441:
2439:
2435:
2434:
2430:
2427:
2423:
2419:
2415:
2411:
2410:
2406:
2403:
2399:
2395:
2391:
2387:
2383:
2382:
2378:
2375:
2371:
2367:
2366:
2362:
2359:
2355:
2354:
2350:
2349:
2347:
2345:
2341:
2338:
2335:
2334:growth factor
2329:
2325:
2314:
2310:
2309:
2305:
2304:
2302:
2298:
2291:
2287:
2286:
2282:
2281:
2279:
2275:
2268:
2264:
2263:
2259:
2258:
2256:
2252:
2245:
2241:
2240:
2236:
2233:
2229:
2228:
2224:
2221:
2217:
2213:
2212:ABCD syndrome
2209:
2208:
2204:
2201:
2197:
2196:
2192:
2189:
2185:
2181:
2180:
2176:
2173:
2169:
2165:
2161:
2160:
2156:
2153:
2149:
2148:
2144:
2143:
2141:
2137:
2134:
2131:
2126:
2122:
2117:
2110:
2105:
2103:
2098:
2096:
2091:
2090:
2087:
2073:
2070:
2069:
2067:
2064:
2060:
2059:
2055:
2052:
2048:
2047:
2043:
2040:
2036:
2032:
2031:
2027:
2024:
2020:
2016:
2015:
2011:
2008:
2004:
2003:
1999:
1995:
1992:
1988:
1987:
1983:
1980:
1976:
1975:
1971:
1970:
1968:
1962:
1956:
1953:
1951:
1948:
1947:
1945:
1941:
1935:
1932:
1930:
1927:
1925:
1922:
1920:
1917:
1915:
1912:
1910:
1907:
1905:
1902:
1900:
1897:
1895:
1892:
1890:
1887:
1886:
1884:
1882:
1878:
1870:
1867:
1865:
1862:
1860:
1857:
1855:
1852:
1851:
1849:
1845:
1842:
1840:
1837:
1835:
1832:
1830:
1827:
1825:
1822:
1820:
1817:
1816:
1814:
1812:
1808:
1802:
1799:
1797:
1794:
1792:
1789:
1787:
1784:
1782:
1779:
1777:
1774:
1772:
1769:
1767:
1764:
1762:
1759:
1757:
1754:
1752:
1749:
1747:
1744:
1743:
1741:
1739:
1738:Short stature
1735:
1727:
1724:
1722:
1719:
1717:
1714:
1712:
1709:
1707:
1704:
1703:
1701:
1697:
1694:
1692:
1689:
1687:
1684:
1682:
1679:
1677:
1674:
1672:
1669:
1668:
1667:
1664:
1663:
1661:
1659:
1655:
1650:
1643:
1638:
1636:
1631:
1629:
1624:
1623:
1620:
1607:
1603:
1602:
1598:
1596:
1592:
1591:
1587:
1585:
1581:
1580:
1576:
1575:
1572:
1568:
1561:
1557:
1556:
1552:
1550:
1546:
1545:
1541:
1539:
1535:
1534:
1530:
1528:
1524:
1523:
1519:
1517:
1513:
1512:
1508:
1504:
1502:
1498:
1497:
1493:
1489:
1488:
1485:
1480:
1476:
1470:
1467:
1466:
1453:
1449:
1444:
1439:
1435:
1431:
1427:
1423:
1419:
1415:
1411:
1404:
1396:
1392:
1388:
1384:
1380:
1376:
1373:(2): 357–64.
1372:
1368:
1361:
1346:
1342:
1336:
1328:
1324:
1320:
1316:
1311:
1306:
1303:(2): 376–85.
1302:
1298:
1294:
1287:
1279:
1275:
1271:
1267:
1263:
1259:
1255:
1251:
1243:
1235:
1231:
1227:
1223:
1219:
1215:
1211:
1207:
1200:
1192:
1188:
1184:
1180:
1176:
1172:
1168:
1164:
1160:
1156:
1149:
1147:
1132:
1128:
1124:
1120:
1113:
1105:
1101:
1097:
1093:
1089:
1085:
1082:(2): 165–72.
1081:
1077:
1069:
1061:
1057:
1053:
1049:
1045:
1041:
1034:
1026:
1022:
1017:
1012:
1008:
1004:
1000:
993:
985:
981:
977:
973:
969:
965:
962:(2): 321–55.
961:
957:
950:
942:
938:
934:
930:
926:
922:
919:(2): 217–25.
918:
914:
907:
892:
888:
882:
867:
863:
857:
842:
838:
832:
824:
818:
814:
813:
805:
797:
793:
789:
785:
781:
774:
766:
762:
758:
757:
749:
741:
735:
731:
730:
722:
714:
710:
706:
702:
698:
694:
690:
686:
682:
678:
671:
669:
662:
661:Who Named It?
658:
657:
651:
635:
631:
625:
621:
611:
608:
604:
601:
599:
596:
594:
591:
589:
586:
585:
583:
582:
576:
569:
565:
562:
561:
560:
551:
548:
544:
529:
527:
523:
519:
509:
507:
503:
499:
495:
491:
487:
483:
478:
476:
471:
466:
464:
463:chromosome 10
460:
457:
453:
448:
438:
435:
426:
424:
420:
411:
397:
394:
391:
388:
387:
383:
380:
377:
374:
373:
369:
366:
363:
360:
359:
356:
352:
350:
346:
344:
340:
338:
337:
330:
326:
322:
318:
317:
316:
310:
308:
305:
302:
298:
295:
294:
293:
285:
276:
273:
269:
268:Brachycephaly
265:
256:
242:
239:
234:
232:
228:
224:
223:plagiocephaly
220:
216:
212:
208:
204:
203:brachycephaly
200:
196:
192:
188:
187:
182:
178:
174:
169:
167:
163:
158:
156:
155:
150:
146:
142:
138:
134:
129:
127:
123:
119:
115:
111:
108:is a form of
107:
98:
94:
90:
85:
79:
76:
74:
70:
65:
61:
56:
52:
48:
43:
37:
33:
19:
2858:
2846:
2834:
2821:
2820:
2767:
2745:
2733:
2721:
2694:
2682:
2670:
2658:
2646:
2634:
2627:TNF receptor
2597:
2585:
2552:
2489:
2460:
2448:
2431:
2407:
2385:
2379:
2363:
2351:
2306:
2283:
2260:
2237:
2225:
2205:
2193:
2177:
2157:
2145:
2118:deficiencies
2056:
2044:
2028:
2012:
1996:
1984:
1972:
1844:Gastrulation
1670:
1658:Craniofacial
1599:
1588:
1577:
1553:
1542:
1531:
1520:
1505:
1490:
1417:
1413:
1403:
1370:
1366:
1360:
1348:. Retrieved
1344:
1335:
1300:
1296:
1286:
1253:
1249:
1242:
1212:(1): 48–53.
1209:
1205:
1199:
1158:
1154:
1136:21 September
1134:, retrieved
1122:
1112:
1079:
1075:
1068:
1043:
1039:
1033:
1006:
1003:J. Perinatol
1002:
992:
959:
955:
949:
916:
912:
906:
896:21 September
894:. Retrieved
890:
881:
871:21 September
869:. Retrieved
865:
856:
846:21 September
844:. Retrieved
840:
831:
811:
804:
787:
783:
773:
755:
748:
728:
721:
680:
676:
654:
650:
638:. Retrieved
634:the original
624:
574:
557:
540:
524:. Molecular
515:
479:
467:
444:
432:
416:
354:
348:
342:
321:clinodactyly
314:
290:
261:
235:
184:
170:
159:
152:
144:
136:
133:Eugène Apert
130:
105:
104:
36:
2128:(including
1966:known locus
1864:Sirenomelia
1579:MedlinePlus
506:osteoblasts
434:Omphalocele
429:Other signs
355:("rosebud")
50:Other names
2891:Categories
2331:(including
1859:Ectromelia
1544:DiseasesDB
1123:StatPearls
616:References
554:Syndactyly
543:LeFort III
532:Treatments
498:mesenchyme
490:metaphysis
349:("mitten")
301:syndactyly
279:Syndactyly
231:oxycephaly
162:embryology
154:syndactyly
2684:TNFRSF13B
2672:TNFRSF13C
2648:TNFRSF13B
2068:Multiple
1651:syndromes
1590:eMedicine
1560:205258009
1555:SNOMED CT
1434:1535-2188
1387:0094-1298
976:0094-1298
933:0094-1298
765:174056103
697:0032-1052
512:Diagnosis
502:apoptosis
494:diaphysis
353:Type III
343:("spade")
238:incidence
166:apoptosis
131:In 1906,
73:Specialty
2872:See also
2802:Integrin
2636:TNFRSF1A
2574:JAK-STAT
2508:Endoglin
1848:mesoderm
1711:Cyclopia
1601:Orphanet
1452:27895538
1350:17 March
1327:39997577
1319:18773495
1297:Dev. Dyn
1278:32124914
1270:11335797
1234:26465362
1191:33543066
1183:12893942
1131:30085535
1104:12423131
1060:25045033
1025:20877364
796:11620265
705:12832871
656:synd/194
640:25 April
579:See also
482:isoforms
347:Type II
299:complex
186:in utero
126:mandible
2795:AGM3, 6
2696:TNFRSF6
2660:TNFRSF5
2300:Class F
2277:Class C
2254:Class B
2139:Class A
2130:hormone
1595:ped/122
1538:D000168
1443:5115922
1395:1648464
1226:8673103
1163:Bibcode
1155:Science
1096:7719344
984:2065493
941:2065483
713:8592940
341:Type I
191:sutures
145:cephalo
122:maxilla
2848:BMPR1A
2599:CSF2RA
2554:GUCY2D
2530:TGFBR2
2526:TGFBR1
2239:PTGER2
1702:Other
1584:001581
1527:101200
1516:755.55
1450:
1440:
1432:
1393:
1385:
1325:
1317:
1276:
1268:
1232:
1224:
1189:
1181:
1129:
1102:
1094:
1058:
1023:
982:
974:
939:
931:
819:
794:
763:
736:
711:
703:
695:
452:genome
441:Causes
92:Causes
80:
2860:IL2RG
2836:PTCH1
2689:CVID2
2677:CVID4
2516:SMAD4
2512:Alk-1
2491:AMHR2
2450:NTRK1
2409:FGFR3
2381:FGFR2
2365:FGFR1
2262:PTH1R
2227:AVPR2
2207:EDNRB
2195:GnRHR
2159:LHCGR
1811:Limbs
1549:33968
1501:Q87.0
1323:S2CID
1274:S2CID
1230:S2CID
1187:S2CID
1100:S2CID
709:S2CID
518:X-ray
470:FGFR2
461:, on
141:Greek
97:FGFR2
32:Apert
2823:EDAR
2806:LAD1
2769:LDLR
2747:LRP5
2735:LRP4
2723:LRP2
2482:STPK
2433:INSR
2353:ROR2
2308:FZD4
2285:CASR
2179:FSHR
2147:TSHR
1533:MeSH
1522:OMIM
1511:9-CM
1448:PMID
1430:ISSN
1391:PMID
1383:ISSN
1352:2018
1315:PMID
1266:PMID
1222:PMID
1179:PMID
1138:2022
1127:PMID
1092:PMID
1056:PMID
1021:PMID
980:PMID
972:ISSN
937:PMID
929:ISSN
898:2022
873:2022
848:2022
817:ISBN
792:OCLC
761:OCLC
734:ISBN
701:PMID
693:ISSN
642:2023
459:gene
209:and
175:and
137:acro
124:and
112:, a
2718:LRP
2612:MPL
2462:KIT
2344:RTK
1507:ICD
1492:ICD
1438:PMC
1422:doi
1375:doi
1305:doi
1301:238
1258:doi
1254:107
1214:doi
1171:doi
1159:301
1084:doi
1048:doi
1044:100
1011:doi
964:doi
921:doi
685:doi
681:112
659:at
520:or
221:),
201:),
160:In
139:is
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2804::
2793::
2758:,
2754:,
2720::
2587:GH
2584::
2545:GC
2506::
2469:,
2424:,
2420:,
2416:,
2400:,
2396:,
2392:,
2388:,
2372:,
2218:,
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2166:,
2058:19
2046:15
2037:,
2030:12
2021:,
2002:13
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