251:
According to the age, vision and hearing tests can aid in fixing problems related cognition. For problems related to behaviour like ADHD, medication or therapy would be required but a combination of both is more effective. An ophthalmologist should be consulted to treat the eye defects. Play and interactive games encourage the child to speak. Habilitiation in children should begin at an early age. A habilitation team includes professionals with special expertise in how disability affects everyday life, health and development. The entire family is supported to help the affected children and their families adjust better.
61:
37:
135:, which range from mild to moderate depending upon the number of the deletions of genes from the chromosome. Most have delayed development, including delayed speech, motor disabilities and lack of coordination, which makes simple activities like sitting, standing and walking difficult. Most children eventually start speaking, but in cases with severe intellectual disability language use is highly restricted.
205:, which is a bleeding disorder and causes a lifelong risk of abnormal bleeding and bruising due to dysfunction in the platelets. Other symptoms may include eye problems, ear and sinus infections, hearing problems, bone deformities, growth hormone deficiency, gastrointestinal problems, kidney malfunctions, etc.
220:
Imbalanced translocation- in this case, a parent with balanced translocation or other types of chromosomal rearrangement can pass on these genes to their children which further results in an imbalanced translocation. The affected children have deletions on chromosome 11 as well as some extra genetic
242:
There has been no treatment discovered for
Jacobsen syndrome to date, but the symptoms can be treated. 56% of children with Jacobsen syndrome have congenital heart problems; to keep them in check, a baseline evaluation can be made by a paediatric cardiologist by carrying out an electrocardiogram or
233:
If de novo deletion occurs then both the parents have normal chromosomes, and chances that another child will have the deletion decline. Very few cases have been found in which the deletion has been present in mosaic form (where some of the cells have deletion on chromosome 11 and some do not, and
250:
An evaluation by a neuropsychologist or a behaviour specialist like a psychiatrist or psychologist can be performed, including brain imaging like MRI or ERP. Later, as deemed appropriate, intervention programs can be carried through. Music therapy is very beneficial for language development.
234:
the symptoms are less severe) in one of the parents, which increases the risk of having another child with
Jacobsen syndrome. When the child's chromosomal abnormality occurs due to one of the parents' balanced translocation, the chances of another child having the abnormality is high.
213:
Jacobsen syndrome is caused by deletion of genetic material from the long arm of chromosome 11. The size of deletion may vary across patients, but the deletion always occurs at the end terminal of the q arm of chromosome 11. There are three ways in which the deletion could occur:
246:
Monthly CBT may help ease bleeding disorders. Consecutively, platelet transfusion and ddAVP can be carried out. Medication that interferes with platelet count should be avoided, and oral contraceptive therapy may be considered for women with heavy bleeding during menses.
259:
The estimated prevalence of
Jacobsen syndrome is believed to be approximately 1 out of every 100,000 births. For reasons unknown, females are twice as likely to have Jacobsen syndrome than males. No preference for any race or ethnicity has been reported so far.
224:
Ring chromosome 11- in this case genetic material from both long and short arm of the chromosome get deleted, and the remaining part joins and forms a ring like structure. Here the affected person would have symptoms associated with both 11q and 11p deletion.
268:
The syndrome was first identified by Danish geneticist Petrea
Jacobsen in 1973 and was named after her. She discovered it in a family where multiple people had the disorder, and found that the affected children had
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de novo deletion- this is a random event that occurred during the formation of the sperm or the egg or during the cell division in the embryonic stage, where genes from chromosome 11 get deleted.
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Some children also experience behavioural problems like distractibility, hyperactivity, impaired communication and social skills, which qualifies them for a diagnosis of
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755:
Favier, Remi; Akshoomoff, Natacha; Mattson, Sarah; Grossfeld, Paul (1 September 2015). "Jacobsen syndrome: Advances in our knowledge of phenotype and genotype".
487:
Favier, Remi; Akshoomoff, Natacha; Mattson, Sarah; Grossfeld, Paul (1 September 2015). "Jacobsen syndrome: Advances in our knowledge of phenotype and genotype".
331:
Favier, Remi; Akshoomoff, Natacha; Mattson, Sarah; Grossfeld, Paul (1 September 2015). "Jacobsen syndrome: Advances in our knowledge of phenotype and genotype".
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Jacobsen syndrome is catastrophic in 1 out of every 5 cases, with children usually dying within the first 2 years of life due to heart complications.
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101:. The severity of symptoms depends on the number of deletions; the more deletions there are, the more severe the symptoms are likely to be.
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of chromosome 11, it is also called 11q terminal deletion disorder. The deletion may range from 5 million to 16 million deleted DNA
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201:. Heart defects are very common in children with Jacobsen syndrome. 88.5% of people with the disorder have
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116:. Research shows that almost 88.5% of people with Jacobsen syndrome have a bleeding disorder called
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596:"Jacobsen syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
578:"Jacobsen syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
277:. Since then, only 200 cases have been reported of Jacobsen syndrome in medical literature.
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between chromosome 11 and 21 which they had inherited from one of their parents who had
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Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
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American
Journal of Medical Genetics Part C: Seminars in Medical Genetics
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American
Journal of Medical Genetics Part C: Seminars in Medical Genetics
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American
Journal of Medical Genetics Part C: Seminars in Medical Genetics
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Del(11)(qter), distal deletion 11q, distal monosomy 11q, monosomy 11qter
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Template:Congenital malformations and deformations of skin appendages
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A girl displaying characteristic facial features of
Jacobsen syndrome
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1999:
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112:, delayed development and a variety of physical problems including
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2011:
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echocardiogram. Any problems that are found can be treated then.
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Focal palmoplantar keratoderma with oral mucosal hyperkeratosis
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Congenital hypertrophy of the lateral fold of the hallux
1724:
Template:DNA replication and repair-deficiency disorder
799:
185:Excess skin covering in the inner corner of eyes (
1340:Diffuse nonepidermolytic palmoplantar keratoderma
2787:
1064:Nonbullous congenital ichthyosiform erythroderma
131:Almost all children with Jacobsen syndrome have
1529:Palmoplantar keratoderma and spastic paraplegia
1335:Diffuse epidermolytic palmoplantar keratoderma
2730:46,XX testicular disorders of sex development
1976:
1866:Congenital malformations of the dermatoglyphs
896:
1990:
138:They have distinctive facial features like:
2552:Acute myeloblastic leukemia with maturation
104:People with Jacobsen syndrome have serious
1983:
1969:
1891:Melanotic neuroectodermal tumor of infancy
1628:Keratosis follicularis spinulosa decalvans
1059:Ichthyosis–sclerosing cholangitis syndrome
903:
889:
59:
35:
2811:Syndromes with craniofacial abnormalities
1851:Congenital cartilaginous rest of the neck
1446:Focal palmoplantar and gingival keratosis
1916:Rapidly involuting congenital hemangioma
1506:Keratosis punctata of the palmar creases
1501:Keratosis punctata palmaris et plantaris
1372:Clouston's hidrotic ectodermal dysplasia
93:. Since the deletion takes place on the
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1964:
977:Congenital ichthyosiform erythroderma
884:
670:
438:
293:
126:
1638:Keratosis pilaris atrophicans faciei
1223:Dermatopathia pigmentosa reticularis
89:that includes band 11q24.1. It is a
2665:Desmoplastic small-round-cell tumor
13:
2796:Autosomal monosomies and deletions
1931:Superficial lymphatic malformation
1876:Congenital smooth muscle hamartoma
1345:Palmoplantar keratoderma of Sybert
914:malformations and deformations of
221:material from another chromosome.
14:
2837:
1403:Scleroatrophic syndrome of Huriez
1233:Hypohidrotic ectodermal dysplasia
795:
2238:22q11.2 distal deletion syndrome
1516:Porokeratosis plantaris discreta
1473:Striate palmoplantar keratoderma
2637:Dermatofibrosarcoma protuberans
2580:Acute megakaryoblastic leukemia
2508:Anaplastic large-cell lymphoma
2170:Chromosome 5q deletion syndrome
1941:Verrucous vascular malformation
1871:Congenital preauricular fistula
1841:Accessory nail of the fifth toe
1718:Template:Pigmentation disorders
1511:Schöpf–Schulz–Passarge syndrome
1491:Acrokeratoelastoidosis of Costa
1196:Laryngoonychocutaneous syndrome
1069:Ichthyosis linearis circumflexa
1054:Ichthyosis prematurity syndrome
748:
730:
701:
683:
664:
635:
606:
588:
570:
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182:Downturned corners of the mouth
1555:Erythrokeratodermia variabilis
1466:Pachyonychia congenita type II
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451:
432:
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385:
367:
324:
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287:
1:
2801:Syndromes affecting the heart
2360:Klinefelter syndrome (47,XXY)
2125:1q21.1 copy number variations
1881:Cystic lymphatic malformation
1834:Cavernous venous malformation
1461:Pachyonychia congenita type I
1384:Corneodermatoosseous syndrome
1044:Ichthyosis bullosa of Siemens
280:
254:
2566:Acute promyelocytic leukemia
2522:Acute lymphoblastic leukemia
2214:17q12 microdeletion syndrome
2089:22q11.2 duplication syndrome
2067:16p11.2 duplication syndrome
1289:Popliteal pterygium syndrome
981:Epidermolytic hyperkeratosis
715:(in Swedish). Archived from
649:(in Swedish). Archived from
620:(in Swedish). Archived from
555:(in Swedish). Archived from
465:(in Swedish). Archived from
399:(in Swedish). Archived from
237:
7:
2133:1q21.1 duplication syndrome
2020:1q21.1 duplication syndrome
1921:Rosenthal–Kloepfer syndrome
1906:Omphalomesenteric duct cyst
1623:Keratolytic winter erythema
1283:Gerodermia osteodysplastica
228:
10:
2842:
1496:Focal acral hyperkeratosis
1243:Ellis–van Creveld syndrome
671:Reference, Genetics Home.
439:Reference, Genetics Home.
294:Reference, Genetics Home.
263:
179:Abnormally thin upper lips
2806:Syndromes affecting blood
2708:
2679:Alveolar rhabdomyosarcoma
2601:
2530:
2460:
2447:
2438:
2414:XYYYY syndrome (49,XYYYY)
2380:XXXXY syndrome (49,XXXXY)
2375:XXXYY syndrome (49,XXXYY)
2337:
2319:
2305:
2114:
2007:
1998:
1811:
1781:
1745:
1736:
1655:
1574:
1420:Papillon–Lefèvre syndrome
1321:
1307:
1260:
1209:
1086:
1036:
1018:
991:Harlequin-type ichthyosis
967:
949:
926:
803:
600:rarediseases.info.nih.gov
582:rarediseases.info.nih.gov
133:intellectual disabilities
106:intellectual disabilities
48:
43:
34:
26:
21:
2154:Wolf–Hirschhorn syndrome
2129:1q21.1 deletion syndrome
1992:Chromosome abnormalities
1294:Pseudoxanthoma elasticum
1010:Sjögren–Larsson syndrome
271:unbalanced translocation
208:
203:Paris-Trousseau syndrome
118:Paris-Trousseau syndrome
2538:Philadelphia chromosome
2409:XYYY syndrome (48,XYYY)
2370:XXXY syndrome (48,XXXY)
2365:XXYY syndrome (48,XXYY)
2250:22q13 deletion syndrome
2025:2q31.1 microduplication
1819:Aplasia cutis congenita
1238:Focal dermal hypoplasia
1201:Skin fragility syndrome
1049:Ichthyosis follicularis
709:"11q deletion syndrome"
677:Genetics Home Reference
643:"11q deletion syndrome"
614:"11q deletion syndrome"
549:"11q deletion syndrome"
459:"11q deletion syndrome"
445:Genetics Home Reference
393:"11q deletion syndrome"
300:Genetics Home Reference
2816:Rare genetic syndromes
2397:Pentasomy X (49,XXXXX)
2329:Turner syndrome (45,X)
2210:Smith–Magenis syndrome
2206:Miller–Dieker syndrome
2141:1p36 deletion syndrome
1936:Thyroglossal duct cyst
1901:Nasolacrimal duct cyst
1824:Amniotic band syndrome
1618:Dyskeratosis congenita
1606:Dyskeratosis congenita
1456:Pachyonychia congenita
1367:Bart–Pumphrey syndrome
1299:Van der Woude syndrome
1274:Ehlers–Danlos syndrome
713:www.socialstyrelsen.se
647:www.socialstyrelsen.se
618:www.socialstyrelsen.se
553:www.socialstyrelsen.se
463:www.socialstyrelsen.se
397:www.socialstyrelsen.se
275:balanced translocation
2404:XYY syndrome (47,XYY)
2392:Tetrasomy X (48,XXXX)
2275:Prader–Willi syndrome
1801:Nevus flammeus nuchae
1712:Template:Phakomatoses
1684:Hereditary lymphedema
1248:Rapp–Hodgkin syndrome
937:Congenital ichthyosis
156:Small ears which are
2496:Mantle cell lymphoma
2166:Cri du chat syndrome
1791:Capillary hemangioma
1693:Urticaria pigmentosa
1451:Howel–Evans syndrome
1211:Ectodermal dysplasia
1152:Generalized atrophic
769:10.1002/ajmg.c.31448
501:10.1002/ajmg.c.31448
345:10.1002/ajmg.c.31448
162:Widely-spaced eyes (
75:chromosomal disorder
2826:Syndromes with ADHD
2482:Follicular lymphoma
1478:Tyrosinemia type II
1028:X-linked ichthyosis
986:Lamellar ichthyosis
959:Ichthyosis vulgaris
942:erythrokeratodermia
738:"Jacobsen Syndrome"
673:"Jacobsen syndrome"
531:"Jacobsen Syndrome"
441:"Jacobsen syndrome"
422:"Jacobsen Syndrome"
375:"Jacobsen Syndrome"
314:"Jacobsen Syndrome"
110:dysmorphic features
91:congenital disorder
2721:Uniparental disomy
2716:Fragile X syndrome
2651:Myxoid liposarcoma
2503:t(11 CCND1:14 IGH)
2387:Trisomy X (47,XXX)
2265:genomic imprinting
2045:Distal trisomy 10q
1861:Congenital lip pit
1425:Haim–Munk syndrome
1377:Vohwinkel syndrome
1252:Hay–Wells syndrome
1228:Hay–Wells syndrome
1074:Ichthyosis hystrix
1000:Netherton syndrome
296:"Jacobsensyndrome"
176:Broad nasal bridge
149:Pointed forehead (
127:Signs and symptoms
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2782:
2735:Marker chromosome
2704:
2703:
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2434:
2433:
2301:
2300:
2271:Angelman syndrome
2226:DiGeorge syndrome
2194:Jacobsen syndrome
2182:Williams syndrome
1958:
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1954:
1953:
1886:Median raphe cyst
1846:Bronchogenic cyst
1768:PHACE association
1732:
1731:
1651:
1650:
1643:Keratosis pilaris
1587:Keratosis pilaris
1541:Carvajal syndrome
1521:Spiny keratoderma
1186:Costello syndrome
1082:
1081:
878:
877:
71:Jacobsen syndrome
68:
67:
22:Jacobsen syndrome
16:Medical condition
2833:
2821:Syndromic autism
2726:XX male syndrome
2623:Synovial sarcoma
2500:Multiple myeloma
2468:Burkitt lymphoma
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2348:other karyotypes
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2099:Cat-eye syndrome
2005:
2004:
1985:
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1962:
1961:
1773:Sinus pericranii
1743:
1742:
1599:Darier's disease
1408:Olmsted syndrome
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1219:Naegeli syndrome
1191:Kindler syndrome
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187:epicanthal folds
169:Droopy eyelids (
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55:Medical genetics
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2740:Ring chromosome
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2009:
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1812:Other/ungrouped
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1796:Port-wine stain
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77:resulting from
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2440:Translocations
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2234:
2233:
2223:
2222:
2221:
2203:
2202:
2201:
2191:
2190:
2189:
2179:
2178:
2177:
2163:
2162:
2161:
2151:
2150:
2149:
2120:
2118:
2112:
2111:
2109:
2108:
2107:
2106:
2096:
2091:
2086:
2085:
2084:
2074:
2069:
2064:
2059:
2058:
2057:
2050:Patau syndrome
2047:
2042:
2037:
2032:
2027:
2022:
2016:
2014:
2002:
1996:
1995:
1988:
1987:
1980:
1973:
1965:
1956:
1955:
1952:
1951:
1949:
1948:
1943:
1938:
1933:
1928:
1923:
1918:
1913:
1911:Poland anomaly
1908:
1903:
1898:
1896:Mongolian spot
1893:
1888:
1883:
1878:
1873:
1868:
1863:
1858:
1853:
1848:
1843:
1837:
1836:
1831:
1829:Branchial cyst
1826:
1821:
1815:
1813:
1809:
1808:
1806:
1805:
1804:
1803:
1793:
1787:
1785:
1779:
1778:
1776:
1775:
1770:
1765:
1760:
1755:
1749:
1747:
1740:
1734:
1733:
1730:
1729:
1703:
1702:
1697:
1696:
1695:
1686:
1674:
1673:
1672:
1659:
1657:
1653:
1652:
1649:
1648:
1646:
1645:
1640:
1635:
1630:
1625:
1620:
1614:
1613:
1611:Lelis syndrome
1608:
1603:
1602:
1601:
1589:
1584:
1582:Meleda disease
1578:
1576:
1572:
1571:
1569:
1568:
1567:
1566:
1557:
1545:
1544:
1543:
1531:
1524:
1523:
1518:
1513:
1508:
1503:
1498:
1493:
1483:
1482:
1481:
1480:
1475:
1470:
1469:
1468:
1463:
1453:
1448:
1443:
1434:
1432:Camisa disease
1429:
1428:
1427:
1422:
1410:
1405:
1400:
1399:
1398:
1396:Naxos syndrome
1386:
1381:
1380:
1379:
1374:
1369:
1353:
1352:
1350:Meleda disease
1347:
1342:
1337:
1327:
1325:
1316:
1309:Hyperkeratosis
1305:
1304:
1302:
1301:
1296:
1291:
1286:
1276:
1270:
1268:
1258:
1257:
1255:
1254:
1245:
1240:
1235:
1230:
1225:
1215:
1213:
1207:
1206:
1204:
1203:
1198:
1193:
1188:
1181:
1180:
1179:
1178:
1173:
1162:
1161:
1160:
1159:
1154:
1149:
1144:
1133:
1132:
1131:
1130:
1125:
1120:
1115:
1110:
1105:
1094:
1092:
1084:
1083:
1080:
1079:
1077:
1076:
1071:
1066:
1061:
1056:
1051:
1046:
1040:
1038:
1034:
1033:
1031:
1030:
1024:
1022:
1016:
1015:
1013:
1012:
1007:
1005:CHIME syndrome
1002:
996:
995:
994:
993:
983:
973:
971:
965:
964:
962:
961:
955:
953:
944:
930:
928:Genodermatosis
924:
923:
908:
907:
900:
893:
885:
876:
875:
872:
871:
860:
849:
838:
826:
813:
808:
807:
805:
804:Classification
797:
796:External links
794:
791:
790:
763:(3): 239–250.
747:
729:
700:
682:
663:
634:
605:
587:
569:
540:
522:
495:(3): 239–250.
479:
450:
431:
413:
384:
366:
339:(3): 239–250.
323:
305:
285:
284:
282:
279:
265:
262:
256:
253:
239:
236:
230:
227:
210:
207:
191:
190:
183:
180:
177:
174:
167:
160:
154:
151:trigonocephaly
147:
128:
125:
66:
65:
52:
46:
45:
41:
40:
32:
31:
28:
24:
23:
15:
9:
6:
4:
3:
2:
2838:
2827:
2824:
2822:
2819:
2817:
2814:
2812:
2809:
2807:
2804:
2802:
2799:
2797:
2794:
2793:
2791:
2774:
2770:
2766:
2762:
2758:
2754:
2750:
2746:
2743:
2742:
2741:
2738:
2736:
2733:
2731:
2727:
2724:
2722:
2719:
2717:
2714:
2713:
2711:
2707:
2696:
2692:
2688:
2684:
2680:
2677:
2674:
2670:
2666:
2663:
2660:
2656:
2652:
2649:
2646:
2642:
2638:
2635:
2632:
2628:
2624:
2621:
2618:
2614:
2610:
2609:Ewing sarcoma
2607:
2606:
2604:
2600:
2589:
2585:
2581:
2578:
2575:
2571:
2567:
2564:
2561:
2557:
2553:
2550:
2547:
2543:
2539:
2536:
2535:
2533:
2529:
2523:
2520:
2517:
2513:
2509:
2506:
2504:
2501:
2497:
2494:
2491:
2487:
2483:
2480:
2477:
2473:
2469:
2466:
2465:
2463:
2459:
2456:
2454:
2450:
2446:
2443:
2441:
2437:
2427:
2424:
2422:
2419:
2418:
2415:
2412:
2410:
2407:
2405:
2402:
2401:
2398:
2395:
2393:
2390:
2388:
2385:
2384:
2381:
2378:
2376:
2373:
2371:
2368:
2366:
2363:
2361:
2358:
2357:
2355:
2353:
2349:
2344:
2340:
2336:
2330:
2327:
2326:
2324:
2322:
2318:
2315:
2312:
2308:
2304:
2294:
2293:Proximal 18q-
2290:
2287:
2286:
2280:
2276:
2272:
2269:
2268:
2267:
2266:
2262:
2261:
2256:
2253:
2252:
2251:
2248:
2244:
2241:
2240:
2239:
2236:
2232:
2229:
2228:
2227:
2224:
2220:
2217:
2216:
2215:
2211:
2207:
2204:
2200:
2197:
2196:
2195:
2192:
2188:
2185:
2184:
2183:
2180:
2176:
2173:
2172:
2171:
2167:
2164:
2160:
2157:
2156:
2155:
2152:
2148:
2145:
2144:
2142:
2138:
2134:
2130:
2126:
2122:
2121:
2119:
2117:
2113:
2105:
2102:
2101:
2100:
2097:
2095:
2092:
2090:
2087:
2083:
2080:
2079:
2078:
2077:Down syndrome
2075:
2073:
2070:
2068:
2065:
2063:
2060:
2056:
2053:
2052:
2051:
2048:
2046:
2043:
2041:
2038:
2036:
2033:
2031:
2028:
2026:
2023:
2021:
2018:
2017:
2015:
2013:
2008:Duplications,
2006:
2003:
2001:
1997:
1993:
1986:
1981:
1979:
1974:
1972:
1967:
1966:
1963:
1947:
1944:
1942:
1939:
1937:
1934:
1932:
1929:
1927:
1924:
1922:
1919:
1917:
1914:
1912:
1909:
1907:
1904:
1902:
1899:
1897:
1894:
1892:
1889:
1887:
1884:
1882:
1879:
1877:
1874:
1872:
1869:
1867:
1864:
1862:
1859:
1857:
1854:
1852:
1849:
1847:
1844:
1842:
1839:
1838:
1835:
1832:
1830:
1827:
1825:
1822:
1820:
1817:
1816:
1814:
1810:
1802:
1799:
1798:
1797:
1794:
1792:
1789:
1788:
1786:
1784:
1780:
1774:
1771:
1769:
1766:
1764:
1761:
1759:
1758:Encephalocele
1756:
1754:
1751:
1750:
1748:
1744:
1741:
1737:Developmental
1735:
1727:
1726:
1725:
1720:
1719:
1714:
1713:
1709:
1701:
1700:Hailey–Hailey
1698:
1694:
1690:
1687:
1685:
1682:
1681:
1680:
1679:
1678:immune system
1675:
1671:
1668:
1667:
1666:
1665:
1661:
1660:
1658:
1654:
1644:
1641:
1639:
1636:
1634:
1631:
1629:
1626:
1624:
1621:
1619:
1616:
1615:
1612:
1609:
1607:
1604:
1600:
1597:
1596:
1595:
1594:
1590:
1588:
1585:
1583:
1580:
1579:
1577:
1573:
1565:
1561:
1558:
1556:
1553:
1552:
1551:
1550:
1546:
1542:
1539:
1538:
1537:
1536:
1532:
1530:
1526:
1525:
1522:
1519:
1517:
1514:
1512:
1509:
1507:
1504:
1502:
1499:
1497:
1494:
1492:
1488:
1485:
1484:
1479:
1476:
1474:
1471:
1467:
1464:
1462:
1459:
1458:
1457:
1454:
1452:
1449:
1447:
1444:
1442:
1438:
1435:
1433:
1430:
1426:
1423:
1421:
1418:
1417:
1416:
1415:
1411:
1409:
1406:
1404:
1401:
1397:
1394:
1393:
1392:
1391:
1387:
1385:
1382:
1378:
1375:
1373:
1370:
1368:
1365:
1364:
1363:
1362:
1358:
1357:
1355:
1354:
1351:
1348:
1346:
1343:
1341:
1338:
1336:
1332:
1329:
1328:
1326:
1324:
1320:
1317:
1315:
1314:keratinopathy
1310:
1306:
1300:
1297:
1295:
1292:
1290:
1287:
1284:
1280:
1277:
1275:
1272:
1271:
1269:
1267:
1263:
1259:
1253:
1249:
1246:
1244:
1241:
1239:
1236:
1234:
1231:
1229:
1226:
1224:
1220:
1217:
1216:
1214:
1212:
1208:
1202:
1199:
1197:
1194:
1192:
1189:
1187:
1183:
1182:
1177:
1174:
1172:
1169:
1168:
1167:
1164:
1163:
1158:
1155:
1153:
1150:
1148:
1145:
1143:
1140:
1139:
1138:
1135:
1134:
1129:
1126:
1124:
1121:
1119:
1116:
1114:
1111:
1109:
1106:
1104:
1101:
1100:
1099:
1096:
1095:
1093:
1089:
1085:
1075:
1072:
1070:
1067:
1065:
1062:
1060:
1057:
1055:
1052:
1050:
1047:
1045:
1042:
1041:
1039:
1035:
1029:
1026:
1025:
1023:
1021:
1017:
1011:
1008:
1006:
1003:
1001:
998:
997:
992:
989:
988:
987:
984:
982:
978:
975:
974:
972:
970:
966:
960:
957:
956:
954:
952:
948:
945:
943:
938:
934:
931:
929:
925:
921:
917:
913:
906:
901:
899:
894:
892:
887:
886:
883:
870:
866:
865:
861:
859:
855:
854:
850:
848:
844:
843:
839:
836:
835:
831:
827:
824:
823:
819:
815:
814:
811:
806:
802:
786:
782:
778:
774:
770:
766:
762:
758:
751:
743:
739:
733:
719:on 2019-02-26
718:
714:
710:
704:
696:
692:
686:
678:
674:
667:
653:on 2019-02-26
652:
648:
644:
638:
624:on 2019-02-26
623:
619:
615:
609:
601:
597:
591:
583:
579:
573:
559:on 2019-02-26
558:
554:
550:
544:
536:
532:
526:
518:
514:
510:
506:
502:
498:
494:
490:
483:
469:on 2019-02-26
468:
464:
460:
454:
446:
442:
435:
427:
423:
417:
403:on 2019-02-26
402:
398:
394:
388:
380:
376:
370:
362:
358:
354:
350:
346:
342:
338:
334:
327:
319:
315:
309:
301:
297:
290:
286:
278:
276:
272:
261:
252:
248:
244:
235:
226:
222:
218:
215:
206:
204:
200:
196:
188:
184:
181:
178:
175:
172:
168:
165:
164:hypertelorism
161:
159:
155:
152:
148:
145:
141:
140:
139:
136:
134:
124:
121:
119:
115:
114:heart defects
111:
107:
102:
100:
96:
92:
88:
87:chromosome 11
84:
80:
76:
72:
62:
56:
53:
51:
47:
42:
38:
33:
29:
25:
20:
2263:
2193:
2137:TAR syndrome
2040:Tetrasomy 9p
1763:Nasal glioma
1753:Dermoid cyst
1722:
1716:
1705:
1704:
1689:Mastocytosis
1676:
1670:EEM syndrome
1662:
1591:
1547:
1533:
1412:
1388:
1359:
920:skin disease
862:
851:
840:
828:
816:
760:
756:
750:
741:
732:
721:. Retrieved
717:the original
712:
703:
697:. June 2018.
694:
685:
676:
666:
655:. Retrieved
651:the original
646:
637:
626:. Retrieved
622:the original
617:
608:
599:
590:
581:
572:
561:. Retrieved
557:the original
552:
543:
534:
525:
492:
488:
482:
471:. Retrieved
467:the original
462:
453:
444:
434:
425:
416:
405:. Retrieved
401:the original
396:
387:
378:
369:
336:
332:
326:
317:
308:
299:
289:
267:
258:
249:
245:
241:
232:
223:
219:
216:
212:
192:
144:microcephaly
142:Small head (
137:
130:
122:
103:
70:
69:
2426:46,XX/46,XY
2343:tetrasomies
2289:Distal 18q-
1926:Skin dimple
1535:desmoplakin
1527:ungrouped:
1414:Cathepsin C
1390:plakoglobin
1091:and related
691:"Treatment"
27:Other names
2790:Categories
2421:45,X/46,XY
2321:Monosomies
2094:Trisomy 22
2072:Trisomy 18
2062:Trisomy 16
2010:including
1356:syndromic
1279:Cutis laxa
1266:Connective
916:integument
912:Congenital
864:DiseasesDB
723:2017-11-27
657:2017-11-27
628:2017-11-27
563:2017-11-27
473:2017-11-27
407:2017-11-27
281:References
255:Prevalence
99:base pairs
73:is a rare
2339:Trisomies
2116:Deletions
2035:Trisomy 9
2030:Trisomy 8
2012:trisomies
2000:Autosomal
1946:Birthmark
1739:anomalies
1706:see also
1184:related:
1037:Ungrouped
318:prezi.com
238:Treatment
50:Specialty
2461:Lymphoid
2453:lymphoma
2449:Leukemia
1664:cadherin
1549:connexin
1487:punctate
1361:connexin
785:10194565
777:26285164
517:10194565
509:26285164
361:10194565
353:26285164
229:Genetics
79:deletion
2689:) t (1
2556:RUNX1T1
2531:Myeloid
2352:mosaics
1746:Midline
1331:diffuse
1262:Elastic
858:D054868
837:: 758.3
825:: Q93.5
742:DoveMed
535:DoveMed
426:DoveMed
379:DoveMed
264:History
158:low-set
2641:COL1A1
2313:linked
1593:ATP2A2
1157:JEB-PA
1128:EBS-MP
1123:EBS-MD
1118:EBS-OG
1113:EBS-DM
1108:EBS-WC
847:147791
783:
775:
695:nhs.uk
515:
507:
359:
351:
171:ptosis
57:
2709:Other
2695:FOXO1
2693:; 13
2687:FOXO1
2685:; 13
2671:; 22
2667:t(11
2657:; 16
2655:DDIT3
2653:t(12
2645:PDGFB
2639:t(17
2615:; 22
2611:t(11
2602:Other
2584:RBM15
2568:t(15
2560:RUNX1
2544:; 22
2484:t(14
1783:Nevus
1656:Other
1575:Other
1437:focal
1147:Mitis
1142:JEB-H
1103:EBS-K
869:31957
781:S2CID
513:S2CID
357:S2CID
209:Cause
95:q arm
85:from
83:genes
2691:PAX7
2683:PAX3
2681:t(2
2643:;22
2629:;18
2625:t(x
2613:FLI1
2588:MKL1
2586:;22
2582:t(1
2574:RARA
2572:,17
2558:;21
2554:t(8
2540:t(9
2516:NPM1
2510:t(2
2490:BCL2
2488:;18
2474:;14
2470:t(8
1176:RDEB
1171:DDEB
853:MeSH
842:OMIM
834:9-CM
773:PMID
505:PMID
349:PMID
199:ADHD
197:and
2673:EWS
2669:WT1
2659:FUS
2631:SSX
2627:SYT
2617:EWS
2570:PML
2546:BCR
2542:ABL
2514:;5
2512:ALK
2486:IGH
2476:IGH
2472:MYC
1564:KID
1560:HID
1323:PPK
1166:DEB
1137:JEB
1098:EBS
830:ICD
818:ICD
765:doi
761:169
497:doi
493:169
341:doi
337:169
195:ASD
81:of
2792::
2773:22
2771:,
2769:21
2767:;
2765:20
2763:;
2761:18
2759:;
2757:15
2755:;
2753:14
2751:;
2747:;
2279:15
2255:22
2243:22
2231:22
2219:17
2199:11
2143:)
2104:22
2082:21
2055:13
1721:,
1715:,
1710:,
1489::
1439::
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