61:
238:
Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. Other symptoms can be treated with medicine or surgery. Most female patients with the syndrome can live a long and normal life, while males have only survived in rare cases.
174:. Conradi–Hünermann syndrome is commonly associated with mild to moderate growth deficiency, disproportionate shortening of long bones, particularly those of the upper arms and the thigh bones, short stature, and/or curvature of the spine. In rare cases,
1969:
1910:
557:
542:
1742:
201:
in a gene, and these mutations are simple substitutions, deletions or insertions and are therefore not "unstable". Scientists are still trying to understand exactly where the mutation occurs so that they can correct it.
1948:
1900:
1895:
279:
1915:
247:
It is also known as Happle's syndrome, after the German
Physician, Rudolf Happle (b. 1938), who wrote a series of papers about the disease in 1976. The name Conradi–Hünermann Syndrome is named for
1806:
1735:
1728:
2073:
391:
1357:
1021:
1769:
640:
1974:
1413:
1277:
1313:
1124:
197:
for some time, but a number of perplexing features of the genetics of the syndrome have now been resolved, including the fact that the disease is caused by
1920:
1173:
702:
1878:
1620:
1468:
1502:
725:
214:. Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body. Sterol levels are measured by
1539:
2068:
1615:
1282:
1258:
336:
308:
1075:
210:
An important test to confirm a diagnosis of
Conradi–Hünermann syndrome is evaluating the plasma for elevated levels of a substance known as
178:
may also be present. While evidence suggests that
Conradi–Hünermann syndrome predominantly occurs in females and is usually inherited as an
1458:
1193:
1049:
1826:
1087:
1751:
930:
911:
735:
707:
633:
572:
1248:
1080:
1492:
1318:
1463:
405:
Steijlen PM, van Geel M, Vreeburg M, et al. (December 2007). "Novel EBP gene mutations in
Conradi–Hünermann–Happle syndrome".
1398:
1117:
353:
1625:
1953:
1244:
679:
1863:
1567:
1147:
626:
1649:
1163:
854:
798:
730:
1168:
803:
1979:
1781:
274:
2063:
1705:
1630:
1524:
1178:
1110:
2033:
920:
1700:
1287:
965:
614:
GeneReviews/NCBI/NIH/UW entry on
Chondrodysplasia Punctata 2, X-Linked, Conradi–Hünermann Syndrome, Happle Syndrome
1403:
475:"Clinical test for Chondrodysplasia punctata 2 X-linked dominant Offered by Laboratory Genetic Metabolic Diseases"
2008:
1660:
1520:
1183:
1041:
1026:
264:
74:
1695:
1362:
1958:
2078:
2058:
1665:
1589:
1379:
1308:
1014:
951:
269:
175:
1680:
1529:
1487:
1437:
1389:
1331:
981:
902:
170:
of skeletal development involving abnormal accumulations of calcium salts within the growing ends of long
44:"Conradi–Hünermann–Happle syndrome", "Happle syndrome," and "X-linked dominant chondrodysplasia punctata"
1512:
1344:
1031:
819:
697:
657:
649:
385:
327:
Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L.; Joseph L. Jorizzo; Ronald P. Rapini (2007).
2003:
1801:
1300:
1226:
1198:
449:
179:
230:
Genetic screening for
Conradi–Hünermann syndrome via the EBP Gene is offered by multiple providers.
60:
2028:
1497:
1208:
1070:
848:
786:
561:
1776:
1759:
1670:
1370:
1268:
988:
430:
215:
17:
500:"Clinical test for Chondrodysplasia punctata 2 X-linked dominant offered by PreventionGenetics"
1562:
1253:
1236:
944:
890:
583:
422:
373:
332:
304:
219:
167:
49:
1675:
1549:
968:
879:
824:
793:
414:
365:
54:
1839:
1821:
1610:
1557:
1433:
1428:
1349:
1155:
1009:
976:
758:
1858:
1811:
1690:
1605:
1478:
1443:
1375:
1001:
939:
885:
839:
753:
745:
662:
566:
499:
474:
1720:
2052:
1685:
1448:
1408:
1336:
1323:
1221:
1216:
1188:
763:
418:
194:
190:
434:
1295:
352:
Ausavarat S, Tanpaiboon P, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V (2008).
166:
Conradi–Hünermann syndrome is a form of chondrodysplasia punctata, a group of rare
1930:
1873:
1834:
1792:
1133:
870:
186:
613:
588:
689:
551:
450:"Conradi Hünermann Syndrome - NORD (National Organization for Rare Disorders)"
154:
78:
1890:
866:
717:
671:
594:
198:
116:
426:
377:
369:
1995:
1940:
1886:
829:
618:
149:
128:
122:
534:
182:
trait, rare cases in which males were affected have also been reported.
1849:
998:
1102:
546:
211:
1581:
599:
280:
List of radiographic findings associated with cutaneous conditions
185:
The genetics of
Conradi–Hünermann syndrome have perplexed medical
1577:
1418:
780:
577:
171:
1724:
1647:
1145:
1106:
622:
354:"Two novel EBP mutations in Conradi–Hünermann–Happle syndrome"
81:
and affects between one in 100,000 and one in 200,000 babies.
1921:
Apparent mineralocorticoid excess syndrome/11β-dehydrogenase
498:
473:
1807:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
299:
Thomas
Bernard Fitzpatrick; Irwin M. Freedberg (2003).
524:
2021:
1993:
1938:
1929:
1857:
1848:
1790:
1758:
1598:
1576:
1548:
1511:
1477:
1388:
1267:
1235:
1207:
1154:
1063:
1040:
997:
964:
929:
910:
901:
865:
838:
818:
772:
744:
716:
688:
670:
656:
528:
48:
40:
35:
1022:Autosomal recessive multiple epiphyseal dysplasia
390:: CS1 maint: DOI inactive as of September 2024 (
1324:Danon disease/glycogen storage disease Type IIb
27:Rare X-linked form of chondrodysplasia punctata
1736:
1429:Color blindness (red and green, but not blue)
1414:Alpha-thalassemia mental retardation syndrome
1118:
634:
504:National Center for Biotechnology Information
479:National Center for Biotechnology Information
301:Fitzpatrick's Dermatology in General Medicine
8:
2074:Cholesterol and steroid metabolism disorders
1314:Glucose-6-phosphate dehydrogenase deficiency
1975:17β-Hydroxysteroid dehydrogenase deficiency
1970:3β-Hydroxysteroid dehydrogenase deficiency
1935:
1854:
1743:
1729:
1721:
1644:
1142:
1125:
1111:
1103:
907:
835:
667:
641:
627:
619:
525:
448:National Organization for Rare Disorders.
322:
320:
59:
32:
1174:X-linked severe combined immunodeficiency
255:(1904–1978), both are German Physicians.
1984:Pseudovaginal perineoscrotal hypospadias
454:National Organization for Rare Disorders
89:Possible signs and symptoms may include
1879:Glucocorticoid remediable aldosteronism
1568:X-linked nephrogenic diabetes insipidus
1493:Hypohidrotic ectodermal dysplasia (EDA)
291:
1503:X-linked endothelial corneal dystrophy
726:Spondyloepiphyseal dysplasia congenita
383:
1459:Charcot–Marie–Tooth disease (CMTX2-3)
1283:Ornithine transcarbamylase deficiency
1259:X-linked adrenal hypoplasia congenita
703:Jansen's metaphyseal chondrodysplasia
7:
1194:X-linked lymphoproliferative disease
1164:Chronic granulomatous disease (CYBB)
1050:Rhizomelic chondrodysplasia punctata
1752:Inborn errors of steroid metabolism
1540:Emery–Dreifuss muscular dystrophy 1
736:Otospondylomegaepiphyseal dysplasia
708:Schmid metaphyseal chondrodysplasia
103:Down-slanting space between eyelids
1249:Spinal and bulbar muscular atrophy
25:
1319:Pyruvate dehydrogenase deficiency
18:Conradi–Hünermann–Happle syndrome
1399:X-linked intellectual disability
1076:Short rib – polydactyly syndrome
419:10.1111/j.1365-2133.2007.08254.x
1245:Androgen insensitivity syndrome
1081:Majewski's polydactyly syndrome
1621:Simpson–Golabi–Behmel syndrome
1:
1590:AMELX Amelogenesis imperfecta
1530:Centronuclear myopathy (MTM1)
1227:X-linked sideroblastic anemia
855:Hereditary multiple exostoses
799:Polyostotic fibrous dysplasia
731:Multiple epiphyseal dysplasia
2069:Syndromes affecting the skin
1782:Mevalonate kinase deficiency
1616:Smith–Fineman–Myers syndrome
1464:Pelizaeus–Merzbacher disease
1358:Purine–pyrimidine metabolism
1088:Léri–Weill dyschondrosteosis
275:List of cutaneous conditions
77:. It is associated with the
1706:Craniofrontonasal dysplasia
1631:Nasodigitoacoustic syndrome
1179:X-linked agammaglobulinemia
133:Thick scales on infant skin
2095:
1949:17α-Hydroxylase deficiency
1827:Smith–Lemli–Opitz syndrome
1817:Conradi–Hünermann syndrome
1701:Orofaciodigital syndrome 1
1535:Conradi–Hünermann syndrome
1288:Oculocerebrorenal syndrome
1055:Conradi–Hünermann syndrome
680:Camurati–Engelmann disease
112:Joint shortening or spasms
71:Conradi–Hünermann syndrome
36:Conradi–Hünermann syndrome
2009:Aromatase excess syndrome
1980:5α-reductase 2 deficiency
1661:X-linked hypophosphatemia
1656:
1643:
1521:Becker muscular dystrophy
1184:Hyper-IgM syndrome type 1
1141:
1042:Chondrodysplasia punctata
1027:Atelosteogenesis, type II
329:Dermatology: 2-Volume Set
265:Chondrodysplasia punctata
109:Asymmetric limb shortness
75:chondrodysplasia punctata
1770:HMG-CoA lyase deficiency
1626:Mohr–Tranebjærg syndrome
1169:Wiskott–Aldrich syndrome
804:McCune–Albright syndrome
1666:Focal dermal hypoplasia
1380:Occipital horn syndrome
1309:Carbohydrate metabolism
952:Thanatophoric dysplasia
372:(inactive 2024-09-12).
270:Fetal warfarin syndrome
176:intellectual disability
2034:Antley–Bixler syndrome
1954:17,20-Lyase deficiency
1681:Incontinentia pigmenti
1488:Dyskeratosis congenita
1332:Lipid storage disorder
1254:KAL1 Kallmann syndrome
921:Antley–Bixler syndrome
903:Growth factor receptor
650:Osteochondrodysplasias
1404:Coffin–Lowry syndrome
1345:Mucopolysaccharidosis
1032:Diastrophic dysplasia
698:Metaphyseal dysplasia
370:10.1684/ejd.2008.0433
253:Carl (Karl) Hünermann
2004:Aromatase deficiency
1911:CAH 3β-dehydrogenase
1802:7-Dehydrocholesterol
1696:Lujan–Fryns syndrome
1363:Lesch–Nyhan syndrome
1301:Adrenoleukodystrophy
1199:Properdin deficiency
331:. St. Louis: Mosby.
2029:X-linked ichthyosis
1901:CAH 11β-hydroxylase
1896:CAH 17α-hydroxylase
1498:X-linked ichthyosis
1071:Fibrochondrogenesis
849:osteochondromatosis
787:Boomerang dysplasia
129:redness of the skin
2064:Skeletal disorders
1916:CAH 21-hydroxylase
1777:Hyper-IgD syndrome
1671:Fragile X syndrome
1481:and related tissue
1148:X-linked recessive
989:Hypochondrogenesis
216:gas chromatography
85:Signs and symptoms
73:is a rare type of
2046:
2045:
2042:
2041:
2017:
2016:
1718:
1717:
1714:
1713:
1650:X-linked dominant
1639:
1638:
1599:No primary system
1100:
1099:
1096:
1095:
960:
959:
945:Hypochondroplasia
891:Maffucci syndrome
814:
813:
609:
608:
338:978-1-4160-2999-1
310:978-0-07-138076-8
251:(1882–1968), and
220:mass spectrometry
180:X-linked dominant
168:genetic disorders
94:Growth deficiency
68:
67:
30:Medical condition
16:(Redirected from
2086:
1936:
1855:
1745:
1738:
1731:
1722:
1676:Aicardi syndrome
1645:
1143:
1127:
1120:
1113:
1104:
1002:sulfation defect
969:collagen disease
908:
880:enchondromatosis
836:
825:chondrodystrophy
820:Chondrodysplasia
794:Opsismodysplasia
668:
643:
636:
629:
620:
526:
514:
513:
511:
510:
495:
489:
488:
486:
485:
470:
464:
463:
461:
460:
445:
439:
438:
402:
396:
395:
389:
381:
349:
343:
342:
324:
315:
314:
296:
136:Large skin pores
97:Low nasal bridge
64:
63:
55:Medical genetics
33:
21:
2094:
2093:
2089:
2088:
2087:
2085:
2084:
2083:
2049:
2048:
2047:
2038:
2013:
1989:
1962:
1925:
1861:
1844:
1840:Desmosterolosis
1822:Lathosterolosis
1786:
1761:
1754:
1749:
1719:
1710:
1652:
1635:
1611:McLeod syndrome
1594:
1572:
1558:Alport syndrome
1544:
1507:
1473:
1434:Ocular albinism
1384:
1350:Hunter syndrome
1263:
1231:
1203:
1150:
1137:
1131:
1101:
1092:
1059:
1036:
1010:Achondrogenesis
993:
977:Achondrogenesis
956:
925:
897:
861:
827:
823:
810:
773:Other/ungrouped
768:
759:Osteopoikilosis
740:
712:
684:
661:
652:
647:
610:
605:
604:
537:
523:
518:
517:
508:
506:
497:
496:
492:
483:
481:
472:
471:
467:
458:
456:
447:
446:
442:
407:Br. J. Dermatol
404:
403:
399:
382:
351:
350:
346:
339:
326:
325:
318:
311:
298:
297:
293:
288:
261:
245:
236:
228:
208:
164:
159:
87:
58:
31:
28:
23:
22:
15:
12:
11:
5:
2092:
2090:
2082:
2081:
2079:Rare syndromes
2076:
2071:
2066:
2061:
2059:Genodermatoses
2051:
2050:
2044:
2043:
2040:
2039:
2037:
2036:
2031:
2025:
2023:
2019:
2018:
2015:
2014:
2012:
2011:
2006:
2000:
1998:
1991:
1990:
1988:
1987:
1986:
1985:
1977:
1972:
1967:
1966:
1965:
1960:
1951:
1945:
1943:
1933:
1927:
1926:
1924:
1923:
1918:
1913:
1904:
1903:
1898:
1882:
1881:
1869:
1867:
1859:Corticosteroid
1852:
1846:
1845:
1843:
1842:
1830:
1829:
1824:
1819:
1814:
1812:CHILD syndrome
1809:
1797:
1795:
1788:
1787:
1785:
1784:
1779:
1773:
1772:
1766:
1764:
1756:
1755:
1750:
1748:
1747:
1740:
1733:
1725:
1716:
1715:
1712:
1711:
1709:
1708:
1703:
1698:
1693:
1691:CHILD syndrome
1688:
1683:
1678:
1673:
1668:
1663:
1657:
1654:
1653:
1648:
1641:
1640:
1637:
1636:
1634:
1633:
1628:
1623:
1618:
1613:
1608:
1606:Barth syndrome
1602:
1600:
1596:
1595:
1593:
1592:
1586:
1584:
1574:
1573:
1571:
1570:
1565:
1563:Dent's disease
1560:
1554:
1552:
1546:
1545:
1543:
1542:
1537:
1532:
1527:
1517:
1515:
1509:
1508:
1506:
1505:
1500:
1495:
1490:
1484:
1482:
1475:
1474:
1472:
1471:
1466:
1461:
1452:
1451:
1446:
1444:Norrie disease
1441:
1431:
1426:Eye disorders:
1422:
1421:
1416:
1411:
1406:
1394:
1392:
1390:Nervous system
1386:
1385:
1383:
1382:
1376:Menkes disease
1366:
1365:
1353:
1352:
1340:
1339:
1327:
1326:
1321:
1316:
1304:
1303:
1291:
1290:
1285:
1273:
1271:
1265:
1264:
1262:
1261:
1256:
1251:
1241:
1239:
1233:
1232:
1230:
1229:
1224:
1219:
1213:
1211:
1205:
1204:
1202:
1201:
1196:
1191:
1186:
1181:
1176:
1171:
1166:
1160:
1158:
1152:
1151:
1146:
1139:
1138:
1132:
1130:
1129:
1122:
1115:
1107:
1098:
1097:
1094:
1093:
1091:
1090:
1085:
1084:
1083:
1073:
1067:
1065:
1064:Other dwarfism
1061:
1060:
1058:
1057:
1052:
1046:
1044:
1038:
1037:
1035:
1034:
1029:
1024:
1019:
1018:
1017:
1006:
1004:
995:
994:
992:
991:
986:
985:
984:
973:
971:
962:
961:
958:
957:
955:
954:
949:
948:
947:
940:Achondroplasia
936:
934:
927:
926:
924:
923:
917:
915:
905:
899:
898:
896:
895:
894:
893:
888:
886:Ollier disease
875:
873:
863:
862:
860:
859:
858:
857:
844:
842:
840:Osteochondroma
833:
816:
815:
812:
811:
809:
808:
807:
806:
796:
791:
790:
789:
776:
774:
770:
769:
767:
766:
761:
756:
754:Raine syndrome
750:
748:
746:Osteosclerosis
742:
741:
739:
738:
733:
728:
722:
720:
714:
713:
711:
710:
705:
700:
694:
692:
686:
685:
683:
682:
676:
674:
665:
663:osteodystrophy
658:Osteodysplasia
654:
653:
648:
646:
645:
638:
631:
623:
617:
616:
607:
606:
603:
602:
591:
580:
569:
554:
538:
533:
532:
530:
529:Classification
522:
521:External links
519:
516:
515:
490:
465:
440:
397:
358:Eur J Dermatol
344:
337:
316:
309:
290:
289:
287:
284:
283:
282:
277:
272:
267:
260:
257:
244:
241:
235:
232:
227:
224:
207:
204:
195:dermatologists
163:
160:
158:
157:
152:
146:
143:
140:
137:
134:
131:
125:
119:
113:
110:
107:
104:
101:
98:
95:
91:
86:
83:
66:
65:
52:
46:
45:
42:
38:
37:
29:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
2091:
2080:
2077:
2075:
2072:
2070:
2067:
2065:
2062:
2060:
2057:
2056:
2054:
2035:
2032:
2030:
2027:
2026:
2024:
2020:
2010:
2007:
2005:
2002:
2001:
1999:
1997:
1992:
1983:
1982:
1981:
1978:
1976:
1973:
1971:
1968:
1964:
1957:
1956:
1955:
1952:
1950:
1947:
1946:
1944:
1942:
1937:
1934:
1932:
1928:
1922:
1919:
1917:
1914:
1912:
1909:
1906:
1905:
1902:
1899:
1897:
1894:
1892:
1888:
1884:
1883:
1880:
1877:
1875:
1871:
1870:
1868:
1865:
1860:
1856:
1853:
1851:
1847:
1841:
1838:
1836:
1832:
1831:
1828:
1825:
1823:
1820:
1818:
1815:
1813:
1810:
1808:
1805:
1803:
1799:
1798:
1796:
1794:
1789:
1783:
1780:
1778:
1775:
1774:
1771:
1768:
1767:
1765:
1763:
1757:
1753:
1746:
1741:
1739:
1734:
1732:
1727:
1726:
1723:
1707:
1704:
1702:
1699:
1697:
1694:
1692:
1689:
1687:
1686:Rett syndrome
1684:
1682:
1679:
1677:
1674:
1672:
1669:
1667:
1664:
1662:
1659:
1658:
1655:
1651:
1646:
1642:
1632:
1629:
1627:
1624:
1622:
1619:
1617:
1614:
1612:
1609:
1607:
1604:
1603:
1601:
1597:
1591:
1588:
1587:
1585:
1583:
1579:
1575:
1569:
1566:
1564:
1561:
1559:
1556:
1555:
1553:
1551:
1547:
1541:
1538:
1536:
1533:
1531:
1528:
1526:
1522:
1519:
1518:
1516:
1514:
1513:Neuromuscular
1510:
1504:
1501:
1499:
1496:
1494:
1491:
1489:
1486:
1485:
1483:
1480:
1476:
1470:
1467:
1465:
1462:
1460:
1457:
1454:
1453:
1450:
1449:Choroideremia
1447:
1445:
1442:
1439:
1435:
1432:
1430:
1427:
1424:
1423:
1420:
1417:
1415:
1412:
1410:
1409:MASA syndrome
1407:
1405:
1402:
1400:
1396:
1395:
1393:
1391:
1387:
1381:
1377:
1374:
1372:
1368:
1367:
1364:
1361:
1359:
1355:
1354:
1351:
1348:
1346:
1342:
1341:
1338:
1337:Fabry disease
1334:
1333:
1329:
1328:
1325:
1322:
1320:
1317:
1315:
1312:
1310:
1306:
1305:
1302:
1299:
1297:
1293:
1292:
1289:
1286:
1284:
1281:
1279:
1275:
1274:
1272:
1270:
1266:
1260:
1257:
1255:
1252:
1250:
1246:
1243:
1242:
1240:
1238:
1234:
1228:
1225:
1223:
1222:Haemophilia B
1220:
1218:
1217:Haemophilia A
1215:
1214:
1212:
1210:
1206:
1200:
1197:
1195:
1192:
1190:
1187:
1185:
1182:
1180:
1177:
1175:
1172:
1170:
1167:
1165:
1162:
1161:
1159:
1157:
1153:
1149:
1144:
1140:
1135:
1128:
1123:
1121:
1116:
1114:
1109:
1108:
1105:
1089:
1086:
1082:
1079:
1078:
1077:
1074:
1072:
1069:
1068:
1066:
1062:
1056:
1053:
1051:
1048:
1047:
1045:
1043:
1039:
1033:
1030:
1028:
1025:
1023:
1020:
1016:
1013:
1012:
1011:
1008:
1007:
1005:
1003:
1000:
996:
990:
987:
983:
980:
979:
978:
975:
974:
972:
970:
967:
963:
953:
950:
946:
943:
942:
941:
938:
937:
935:
932:
928:
922:
919:
918:
916:
913:
909:
906:
904:
900:
892:
889:
887:
884:
883:
882:
881:
877:
876:
874:
872:
868:
864:
856:
853:
852:
851:
850:
846:
845:
843:
841:
837:
834:
831:
826:
821:
817:
805:
802:
801:
800:
797:
795:
792:
788:
785:
784:
783:
782:
778:
777:
775:
771:
765:
764:Osteopetrosis
762:
760:
757:
755:
752:
751:
749:
747:
743:
737:
734:
732:
729:
727:
724:
723:
721:
719:
715:
709:
706:
704:
701:
699:
696:
695:
693:
691:
687:
681:
678:
677:
675:
673:
669:
666:
664:
659:
655:
651:
644:
639:
637:
632:
630:
625:
624:
621:
615:
612:
611:
601:
597:
596:
592:
590:
586:
585:
581:
579:
575:
574:
570:
568:
564:
563:
559:
555:
553:
549:
548:
544:
540:
539:
536:
531:
527:
520:
505:
501:
494:
491:
480:
476:
469:
466:
455:
451:
444:
441:
436:
432:
428:
424:
420:
416:
413:(6): 1225–9.
412:
408:
401:
398:
393:
387:
379:
375:
371:
367:
363:
359:
355:
348:
345:
340:
334:
330:
323:
321:
317:
312:
306:
302:
295:
292:
285:
281:
278:
276:
273:
271:
268:
266:
263:
262:
258:
256:
254:
250:
249:Erich Conradi
242:
240:
233:
231:
225:
223:
221:
217:
213:
205:
203:
200:
196:
192:
191:pediatricians
188:
183:
181:
177:
173:
169:
161:
156:
153:
151:
147:
144:
141:
138:
135:
132:
130:
126:
124:
120:
118:
114:
111:
108:
105:
102:
99:
96:
93:
92:
90:
84:
82:
80:
76:
72:
62:
56:
53:
51:
47:
43:
39:
34:
19:
1959:Cytochrome b
1907:
1885:
1872:
1833:
1816:
1800:
1534:
1455:
1425:
1397:
1369:
1356:
1343:
1330:
1307:
1296:Dyslipidemia
1294:
1276:
1054:
878:
847:
779:
593:
582:
571:
556:
541:
507:. Retrieved
503:
493:
482:. Retrieved
478:
468:
457:. Retrieved
453:
443:
410:
406:
400:
386:cite journal
364:(4): 391–3.
361:
357:
347:
328:
300:
294:
252:
248:
246:
237:
229:
209:
184:
165:
88:
70:
69:
1931:Sex steroid
1874:aldosterone
1862:(including
1835:desmosterol
1793:cholesterol
1209:Hematologic
871:enchondroma
828:(including
187:geneticists
148:Bald spots/
145:Coarse hair
142:Sparse hair
41:Other names
2053:Categories
1963:deficiency
1760:Mevalonate
1278:Amino acid
690:Metaphysis
584:DiseasesDB
509:2018-03-01
484:2018-03-01
459:2018-03-01
286:References
155:Ichthyosis
139:Flaky skin
1996:estrogens
1941:androgens
1891:cortisone
1269:Metabolic
1237:Endocrine
1136:disorders
867:Chondroma
718:Epiphysis
672:Diaphysis
600:398719004
595:SNOMED CT
234:Treatment
226:Screening
206:Diagnosis
199:mutations
127:Abnormal
121:Frequent
117:scoliosis
115:Frequent
106:Cataracts
100:Flat face
50:Specialty
1887:cortisol
1850:Steroids
1550:Urologic
1525:Duchenne
1134:X-linked
830:dwarfism
435:25890696
427:17949453
378:18573709
259:See also
162:Genetics
150:alopecia
123:kyphosis
79:EBP gene
1762:pathway
1371:Mineral
1015:type 1B
999:SLC26A2
243:History
212:sterols
1456:Other:
1156:Immune
982:type 2
966:COL2A1
578:302960
567:756.59
433:
425:
376:
335:
307:
57:
2022:Other
1908:both:
1837:path:
1804:path:
1582:tooth
1469:SMAX2
931:FGFR3
912:FGFR2
589:32527
552:Q77.3
431:S2CID
172:bones
1578:Bone
1479:Skin
1419:PHF8
1189:IPEX
781:FLNB
573:OMIM
562:9-CM
423:PMID
392:link
374:PMID
333:ISBN
305:ISBN
193:and
1994:To
1939:To
1864:CAH
1791:To
558:ICD
543:ICD
415:doi
411:157
366:doi
222:.
2055::
1335::
598::
587::
576::
565::
550::
547:10
502:.
477:.
452:.
429:.
421:.
409:.
388:}}
384:{{
362:18
360:.
356:.
319:^
303:.
189:,
1961:5
1893::
1889:/
1876::
1866:)
1744:e
1737:t
1730:v
1580:/
1523:/
1440:)
1438:1
1436:(
1401::
1378:/
1373::
1360::
1347::
1311::
1298::
1280::
1247:/
1126:e
1119:t
1112:v
933::
914::
869:/
832:)
822:/
660:/
642:e
635:t
628:v
560:-
545:-
535:D
512:.
487:.
462:.
437:.
417::
394:)
380:.
368::
341:.
313:.
218:-
20:)
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