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12. Shandilya VK, Parmar LD, Shandilya AV. Functional ambulation with bent knee prostheses for an adult with bilateral 90 degrees knee flexion contractures—A case report. J Family Med Prim Care 2020 ;9:2492-5. Available from:
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There is no cure for
Hallermann–Streiff syndrome. Treatments center around the particular symptoms in each individual. Early measures are based around ensuring proper breathing and intake of nutrients and may include a
673:
44:
Oculomandibulofacial syndrome, François dyscephalic syndrome, Hallermann–Streiff–François syndrome, oculomandibulodyscephaly with hypotrichosis, Aubry syndrome, Ullrich–Fremery-Dohna syndrome
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may be recommended, however some studies have suggested that spontaneous resolution of cataracts occurs in up to 50% of untreated patients. Regular visits to an
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and nasal region) at an appropriate age. Additionally, management for certain heart defects, such as medication or surgery, may be needed.
107:
worldwide. One notable organization that is supporting people with
Hallermann–Streiff syndrome is the Germany-based "Schattenkinder e.V".
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516:
2121:
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E. B. Streiff. Dysmorphie mandibulo-faciale (tête d’oiseau) et alterations oculaires. Ophthalmologica, Basel, 1950, 120: 79–83.
496:
W. Hallermann. Vogelgesicht und
Cataracta congenita. Klinische Monatsblätter für Augenheilkunde, Stuttgart, 1948, 113: 315–318.
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2012:
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Ertekin V, Selimoğlu MA, Selimoğlu E (2004). "Non-lethal
Hallermann-Streiff syndrome with bone fracture: report of a case".
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The genetic cause of
Hallermann–Streiff syndrome has not been conclusively determined. It is most likely due to a
1897:
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920:
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for
Hallermann–Streiff syndrome, however some laboratories offer research genetic testing for the condition.
1944:
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to monitor and deal with other eye problems, some of which may require surgery, are strongly recommended.
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882:
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in many places, including in the facial, leg and pubic areas. Patients also have eye problems including
416:"Hallermann-Streiff syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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Diagnosis is based on the physical characteristics and symptoms. There is no established clinical
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Pizzuti A, Flex E, Mingarelli R, Salpietro C, Zelante L, Dallapiccola B (March 2004).
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441:"A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype"
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Shiomi T, Guilleminault C, Izumi H, Yamada S, Murata K, Kobayashi T (October 1999).
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306:"Obstructive sleep apnoea in a puerperal patient with Hallermann-Streiff syndrome"
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Girl with
Hallermann-Streiff syndrome displaying characteristic facial features
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228:(1908–1988), who first described the syndrome in 1948 and 1950 respectively.
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139:. The physical characteristics of the syndrome can result in difficult
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2020:
2006:
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347:"Hallermann-Streiff syndrome: airway problems during anaesthesia"
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by medical professionals. Intelligence is usually normal.
518:
380:"Hallermann-Streiff syndrome - Natural Living Center"
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542:http://www.jfmpc.com/text.asp?2020/9/5/2492/285055
515:Wynbrandt, James; Ludman, Mark D. (2010-05-12).
2548:Congenital disorders of eye, ear, face and neck
2553:Congenital disorders of musculoskeletal system
224:(1909–2005) and Italian–Swiss ophthalmologist
1545:
851:
681:
200:Management of the condition may also include
8:
345:Malde AD, Jagtap SR, Pantvaidya SH (1994).
103:. There are fewer than 200 people with the
1965:
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1530:
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1134:
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904:
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688:
674:
666:
558:
73:
49:
32:
2457:Progressive symmetric erythrokeratodermia
456:
321:
220:It is named after German ophthalmologist
2471:Clouston's hidrotic ectodermal dysplasia
119:are shorter than the average person and
237:
2418:Keratitis–ichthyosis–deafness syndrome
2237:Congenital absence of the vas deferens
135:. The syndrome can be associated with
7:
1379:Greig cephalopolysyndactyly syndrome
521:. Infobase Publishing. p. 185.
410:
408:
406:
404:
374:
372:
158:, and it may be associated with the
2088:Jervell and Lange-Nielsen syndrome
2027:Jervell and Lange-Nielsen syndrome
869:malformations and deformations of
699:malformations and deformations of
25:
2498:Nephrogenic diabetes insipidus 2
1886:Congenital insensitivity to pain
1881:Paroxysmal extreme pain disorder
1809:Hypokalemic periodic paralysis 2
1660:Hypokalemic periodic paralysis 1
323:10.1034/j.1399-3003.1999.14d42.x
2390:Hypoplastic left heart syndrome
2201:Thyrotoxic periodic paralysis 2
1814:Hyperkalemic periodic paralysis
1665:Thyrotoxic periodic paralysis 1
1052:Congenital patellar dislocation
931:Wallis–Zieff–Goldblatt syndrome
2452:Erythrokeratodermia variabilis
2404:Charcot–Marie–Tooth disease X1
2108:Familial atrial fibrillation 3
2013:Spinocerebellar ataxia type-13
1999:Familial atrial fibrillation 7
1766:Familial hemiplegic migraine 3
1593:Familial hemiplegic migraine 1
1:
2298:Vitelliform macular dystrophy
1824:Potassium-aggravated myotonia
1603:Spinocerebellar ataxia type-6
553:Jablonski's Syndrome Database
283:10.1016/j.anngen.2004.03.005
2558:Syndromes affecting stature
2543:Syndromes affecting the eye
2533:Syndromes of unknown causes
2385:Hallermann–Streiff syndrome
2380:Oculodentodigital dysplasia
1945:Pseudohypoaldosteronism 1AR
1338:Oto-palato-digital syndrome
1333:Hallermann–Streiff syndrome
1057:Congenital knee dislocation
875:musculoskeletal abnormality
825:Preauricular sinus and cyst
786:Hallermann–Streiff syndrome
384:www.naturallivingcenter.net
85:Hallermann–Streiff syndrome
36:Hallermann–Streiff syndrome
18:Hallermann-Streiff syndrome
2574:
1369:Craniodiaphyseal dysplasia
206:craniofacial malformations
2508:
1343:Treacher Collins syndrome
1194:reduction deficits / limb
420:rarediseases.info.nih.gov
57:
48:
1561:Diseases of ion channels
1168:Cenani–Lenz syndactylism
921:Cleidocranial dysostosis
27:Rare congenital disorder
2163:Andersen–Tawil syndrome
1315:Craniofacial dysostosis
226:Enrico Bernardo Streiff
202:surgical reconstruction
2428:Bart–Pumphrey syndrome
1819:Paramyotonia congenita
1704:Malignant hyperthermia
871:musculoskeletal system
246:"Herzlich willkommen!"
2353:Mucolipidosis type IV
1898:Constitutively active
1423:Klippel–Feil syndrome
208:(particularly in the
91:that affects growth,
2284:Osteopetrosis A2, B4
2093:Romano–Ward syndrome
1709:Central core disease
1433:Spina bifida occulta
949:Madelung's deformity
926:Sprengel's deformity
791:Branchial cleft cyst
189:. Early surgery for
121:may not develop hair
1838:Long QT syndrome 10
1251:RAPADILINO syndrome
250:schattenkinder.info
115:Patients with this
93:cranial development
89:congenital disorder
2433:Vohwinkel syndrome
2423:Ichthyosis hystrix
2312:Bartter syndrome 3
2256:Myotonia congenita
2168:Long QT syndrome 7
2149:Bartter syndrome 2
2103:Long QT syndrome 1
2060:Brugada syndrome 5
2046:Long QT syndrome 6
2032:Long QT syndrome 5
1876:Febrile seizure 3B
1857:Long QT syndrome 3
1852:Brugada syndrome 1
1790:Brugada syndrome 6
1776:Febrile seizure 3A
1679:Brugada syndrome 4
1627:Long QT syndrome 8
1622:Brugada syndrome 3
1113:Rocker bottom foot
640:External resources
222:Wilhelm Hallermann
101:dental development
2520:
2519:
2211:
2210:
2173:Short QT syndrome
2098:Short QT syndrome
2074:Short QT syndrome
1985:Episodic ataxia 1
1961:Potassium channel
1955:
1954:
1919:Liddle's syndrome
1738:
1737:
1641:Ocular albinism 2
1598:Episodic ataxia 2
1527:
1526:
1523:
1522:
1519:
1518:
1448:Thoracic skeleton
1428:Spondylolisthesis
1397:
1396:
1263:
1262:
1259:
1258:
1126:
1125:
972:
971:
833:
832:
663:
662:
458:10.1002/humu.9220
82:
81:
30:Medical condition
16:(Redirected from
2565:
2217:Chloride channel
2134:Inward-rectifier
1966:
1749:
1617:Timothy syndrome
1574:
1554:
1547:
1540:
1531:
1495:Pectus carinatum
1490:Pectus excavatum
1453:
1411:Spinal curvature
1403:Vertebral column
1323:Crouzon syndrome
1287:Craniosynostosis
1283:
1274:
1139:fingers and toes
1135:
1047:Discoid meniscus
1004:Upington disease
983:
905:
896:
860:
853:
846:
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690:
683:
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667:
559:
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477:
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386:. Archived from
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266:
260:
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125:reduced eye size
78:
77:
69:Medical genetics
53:
33:
21:
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2564:
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2523:
2522:
2521:
2516:
2504:
2477:
2359:
2318:
2251:Thomsen disease
2232:Cystic fibrosis
2207:
2128:
1951:
1892:
1871:Erythromelalgia
1734:
1685:
1569:Calcium channel
1563:
1558:
1528:
1515:
1511:Poland syndrome
1499:
1475:
1442:
1393:
1347:
1309:
1255:
1246:Larsen syndrome
1234:multiple joints
1229:
1189:
1122:
1061:
1042:Genu recurvatum
1018:
995:Hip dislocation
968:
935:
885:
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864:
834:
829:
813:
795:
783:multiple/other:
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195:ophthalmologist
182:
174:genetic testing
170:
149:
113:
72:
31:
28:
23:
22:
15:
12:
11:
5:
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2270:Dent's disease
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2240:
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2209:
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2015:
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2002:
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1744:Sodium channel
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1374:Dolichocephaly
1371:
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1345:
1340:
1335:
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1311:
1310:
1308:
1307:
1305:Trigonocephaly
1302:
1297:
1291:
1289:
1280:
1278:Skull and face
1271:
1265:
1264:
1261:
1260:
1257:
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1254:
1253:
1248:
1243:
1241:Arthrogryposis
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1231:
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1228:
1227:
1226:
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1215:
1203:
1197:
1195:
1191:
1190:
1188:
1187:
1186:
1185:
1175:
1170:
1165:
1163:Arachnodactyly
1160:
1159:
1158:
1143:
1141:
1132:
1128:
1127:
1124:
1123:
1121:
1120:
1115:
1110:
1105:
1104:
1103:
1091:
1090:
1089:
1084:
1071:
1069:
1067:foot deformity
1063:
1062:
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1054:
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1044:
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1034:
1028:
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1001:
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989:
980:
974:
973:
970:
969:
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966:
961:
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951:
945:
943:
941:hand deformity
937:
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928:
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563:
562:Classification
556:
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547:External links
545:
535:
534:
527:
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498:
489:
472:
431:
400:
368:
351:J Postgrad Med
337:
310:Eur. Respir. J
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2:
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2539:
2538:Rare diseases
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2528:
2515:
2514:
2507:
2499:
2496:
2495:
2494:
2493:
2489:
2488:
2486:
2484:
2480:
2472:
2469:
2468:
2467:
2466:
2462:
2458:
2455:
2453:
2450:
2449:
2448:
2447:
2443:
2439:
2434:
2431:
2429:
2426:
2424:
2421:
2419:
2416:
2415:
2414:
2413:
2409:
2405:
2402:
2401:
2400:
2399:
2395:
2391:
2388:
2386:
2383:
2381:
2378:
2377:
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2375:
2371:
2370:
2368:
2366:
2362:
2354:
2351:
2350:
2349:
2348:
2344:
2340:
2337:
2336:
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2334:
2330:
2329:
2327:
2325:
2321:
2313:
2310:
2309:
2308:
2307:
2303:
2299:
2296:
2295:
2294:
2293:
2289:
2285:
2282:
2281:
2280:
2279:
2275:
2271:
2268:
2267:
2266:
2265:
2261:
2257:
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2252:
2249:
2248:
2247:
2246:
2242:
2238:
2235:
2233:
2230:
2229:
2228:
2227:
2223:
2222:
2220:
2218:
2214:
2202:
2199:
2198:
2197:
2196:
2192:
2188:
2185:
2184:
2183:
2182:
2178:
2174:
2171:
2169:
2166:
2164:
2161:
2160:
2159:
2158:
2154:
2150:
2147:
2146:
2145:
2144:
2140:
2139:
2137:
2135:
2131:
2123:
2120:
2119:
2118:
2117:
2113:
2109:
2106:
2104:
2101:
2099:
2096:
2094:
2091:
2089:
2086:
2085:
2084:
2083:
2079:
2075:
2072:
2071:
2070:
2069:
2065:
2061:
2058:
2057:
2056:
2055:
2051:
2047:
2044:
2043:
2042:
2041:
2037:
2033:
2030:
2028:
2025:
2024:
2023:
2022:
2018:
2014:
2011:
2010:
2009:
2008:
2004:
2000:
1997:
1996:
1995:
1994:
1990:
1986:
1983:
1982:
1981:
1980:
1976:
1975:
1973:
1971:
1970:Voltage-gated
1967:
1964:
1962:
1958:
1946:
1943:
1942:
1941:
1940:
1935:
1934:
1929:
1928:
1924:
1920:
1917:
1916:
1915:
1914:
1909:
1908:
1904:
1903:
1901:
1899:
1895:
1887:
1884:
1882:
1879:
1877:
1874:
1872:
1869:
1868:
1867:
1866:
1862:
1858:
1855:
1853:
1850:
1849:
1848:
1847:
1843:
1839:
1836:
1835:
1834:
1833:
1829:
1825:
1822:
1820:
1817:
1815:
1812:
1810:
1807:
1806:
1805:
1804:
1800:
1796:
1793:
1791:
1788:
1787:
1786:
1785:
1781:
1777:
1774:
1772:
1769:
1767:
1764:
1763:
1762:
1761:
1757:
1756:
1754:
1752:Voltage-gated
1750:
1747:
1745:
1741:
1729:
1726:
1724:
1721:
1720:
1719:
1718:
1714:
1710:
1707:
1705:
1702:
1701:
1700:
1699:
1695:
1694:
1692:
1688:
1680:
1677:
1676:
1675:
1674:
1670:
1666:
1663:
1661:
1658:
1657:
1656:
1655:
1651:
1647:
1644:
1642:
1639:
1638:
1637:
1636:
1632:
1628:
1625:
1623:
1620:
1618:
1615:
1614:
1613:
1612:
1608:
1604:
1601:
1599:
1596:
1594:
1591:
1590:
1589:
1588:
1584:
1583:
1581:
1579:
1578:Voltage-gated
1575:
1572:
1570:
1566:
1562:
1555:
1550:
1548:
1543:
1541:
1536:
1535:
1532:
1512:
1509:
1508:
1506:
1502:
1496:
1493:
1491:
1488:
1487:
1485:
1482:
1478:
1472:
1469:
1467:
1464:
1463:
1461:
1458:
1454:
1451:
1449:
1445:
1439:
1438:Sacralization
1436:
1434:
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1429:
1426:
1424:
1421:
1417:
1414:
1413:
1412:
1409:
1408:
1406:
1404:
1400:
1390:
1387:
1385:
1384:Plagiocephaly
1382:
1380:
1377:
1375:
1372:
1370:
1367:
1365:
1362:
1360:
1357:
1356:
1354:
1350:
1344:
1341:
1339:
1336:
1334:
1331:
1329:
1328:Hypertelorism
1326:
1324:
1321:
1320:
1318:
1316:
1312:
1306:
1303:
1301:
1298:
1296:
1295:Scaphocephaly
1293:
1292:
1290:
1288:
1284:
1281:
1279:
1275:
1272:
1270:
1266:
1252:
1249:
1247:
1244:
1242:
1239:
1238:
1236:
1232:
1224:
1221:
1219:
1216:
1214:
1211:
1210:
1209:
1208:
1204:
1202:
1199:
1198:
1196:
1192:
1184:
1181:
1180:
1179:
1178:Brachydactyly
1176:
1174:
1171:
1169:
1166:
1164:
1161:
1157:
1154:
1153:
1152:
1148:
1145:
1144:
1142:
1140:
1136:
1133:
1131:Either / both
1129:
1119:
1116:
1114:
1111:
1109:
1106:
1102:
1099:
1098:
1097:
1096:
1092:
1088:
1085:
1083:
1080:
1079:
1078:
1077:
1073:
1072:
1070:
1068:
1064:
1058:
1055:
1053:
1050:
1048:
1045:
1043:
1040:
1038:
1035:
1033:
1030:
1029:
1027:
1025:
1021:
1015:
1012:
1010:
1007:
1005:
1002:
1000:
999:Hip dysplasia
996:
993:
992:
990:
988:
984:
981:
979:
975:
965:
962:
960:
957:
955:
952:
950:
947:
946:
944:
942:
938:
932:
929:
927:
924:
922:
919:
918:
916:
914:
910:
906:
903:
901:
897:
894:
892:
888:
884:
880:
876:
872:
868:
861:
856:
854:
849:
847:
842:
841:
838:
826:
823:
822:
820:
816:
810:
807:
806:
804:
802:
798:
792:
789:
787:
784:
781:
780:
777:
774:
772:
768:
767:
764:
761:
759:
756:
754:
750:
749:
746:
743:
741:
738:
736:
732:
731:
728:
725:
723:
719:
718:
716:
714:
710:
706:
702:
698:
691:
686:
684:
679:
677:
672:
671:
668:
655:
651:
650:
646:
645:
642:
638:
631:
627:
626:
622:
620:
616:
615:
611:
609:
605:
604:
600:
598:
594:
593:
589:
585:
582:
581:
577:
573:
572:
569:
564:
560:
554:
551:
550:
546:
544:
543:
530:
528:9781438120959
524:
520:
519:
511:
508:
502:
499:
493:
490:
487:
486:Who Named It?
483:
482:
476:
473:
468:
464:
459:
454:
450:
446:
442:
435:
432:
421:
417:
411:
409:
407:
405:
401:
390:on 2018-03-06
389:
385:
381:
375:
373:
369:
364:
360:
356:
352:
348:
341:
338:
333:
329:
324:
319:
315:
311:
307:
300:
297:
292:
288:
284:
280:
277:(4): 387–91.
276:
272:
265:
262:
251:
247:
241:
238:
231:
229:
227:
223:
215:
213:
211:
207:
203:
198:
196:
192:
188:
179:
177:
175:
167:
165:
163:
162:
157:
155:
146:
144:
142:
138:
134:
130:
126:
122:
118:
110:
108:
106:
102:
98:
94:
90:
86:
76:
70:
67:
65:
61:
56:
52:
47:
43:
39:
34:
19:
2513:ion channels
2510:
2490:
2463:
2440:
2410:
2396:
2384:
2372:
2345:
2331:
2304:
2290:
2276:
2262:
2243:
2224:
2193:
2179:
2155:
2141:
2114:
2080:
2066:
2052:
2038:
2019:
2005:
1991:
1977:
1937:
1931:
1925:
1911:
1905:
1863:
1844:
1830:
1801:
1782:
1758:
1715:
1696:
1690:Ligand gated
1671:
1652:
1633:
1609:
1585:
1359:Macrocephaly
1332:
1205:
1201:Acheiropodia
1173:Ectrodactyly
1093:
1074:
959:Oligodactyly
954:Clinodactyly
883:Appendicular
785:
782:
769:
763:Microcheilia
758:Macrocheilia
751:
733:
720:
647:
623:
612:
601:
586:
574:
538:
517:
510:
501:
492:
479:
475:
448:
444:
434:
423:. Retrieved
419:
392:. Retrieved
388:the original
383:
357:(4): 216–8.
354:
350:
340:
316:(4): 974–7.
313:
309:
299:
274:
270:
264:
253:. Retrieved
249:
240:
219:
199:
187:tracheostomy
183:
171:
159:
153:
150:
127:, bilateral
114:
111:Presentation
84:
83:
2324:TRP channel
1389:Saddle nose
1156:Webbed toes
1147:Polydactyly
1032:Genu valgum
964:Polydactyly
809:Webbed neck
745:Microstomia
740:Macrostomia
204:of certain
137:sleep apnea
97:hair-growth
41:Other names
2527:Categories
2511:See also:
1364:Platybasia
1300:Oxycephaly
1213:Phocomelia
1207:Ectromelia
1183:Stub thumb
1151:Syndactyly
1118:Hammer toe
1087:Pigeon toe
1037:Genu varum
1009:Coxa valga
867:Congenital
776:Microgenia
727:Otocephaly
697:Congenital
625:DiseasesDB
451:(3): 286.
445:Hum. Mutat
425:2018-03-05
394:2018-03-05
271:Ann. Genet
255:2020-05-07
232:References
210:mandibular
141:intubation
1416:Scoliosis
1223:Hemimelia
1108:Pes cavus
1101:Flat feet
1082:Club foot
1014:Coxa vara
818:Ungrouped
481:synd/1767
191:cataracts
180:Treatment
168:Diagnosis
129:cataracts
64:Specialty
2365:Connexin
1466:Cervical
913:shoulder
909:clavicle
891:dysmelia
649:Orphanet
467:14974090
332:10573253
291:15581837
156:mutation
133:glaucoma
117:syndrome
105:syndrome
1795:GEFS+ 1
1771:GEFS+ 2
1654:CACNA1S
1635:CACNA1F
1611:CACNA1C
1587:CACNA1A
1481:sternum
619:D006210
583:: Q87.0
363:9136243
216:History
154:de novo
2347:TRPML1
2306:CLCNKB
2195:KCNJ18
2181:KCNJ11
1939:SCNN1G
1933:SCNN1B
1927:SCNN1A
1913:SCNN1G
1907:SCNN1B
1673:CACNB2
1646:CSNB2A
1504:other:
1218:Amelia
1095:valgus
608:234100
525:
465:
361:
330:
289:
164:gene.
99:, and
71:
2483:Porin
2339:FSGS2
2333:TRPC6
2292:BEST1
2278:CLCN7
2264:CLCN5
2245:CLCN1
2187:TNDM3
2157:KCNJ2
2143:KCNJ1
2122:BFNS1
2116:KCNQ2
2082:KCNQ1
2068:KCNH2
2054:KCNE3
2040:KCNE2
2021:KCNE1
2007:KCNC3
1993:KCNA5
1979:KCNA1
1865:SCN9A
1846:SCN5A
1832:SCN4B
1803:SCN4A
1784:SCN1B
1760:SCN1A
1728:ARVD2
1723:CPVT1
1471:Bifid
1352:other
1269:Axial
1076:varus
735:mouth
630:32617
597:756.0
147:Cause
87:is a
2492:AQP2
2465:GJB6
2446:GJB4
2442:GJB3
2412:GJB2
2398:GJB1
2374:GJA1
2226:CFTR
1717:RYR2
1698:RYR1
1457:ribs
1024:knee
900:Arms
887:limb
801:Neck
771:chin
713:Face
705:neck
703:and
701:face
654:2108
614:MeSH
603:OMIM
592:9-CM
523:ISBN
463:PMID
359:PMID
328:PMID
287:PMID
161:GJA1
131:and
987:hip
978:Leg
753:lip
722:jaw
588:ICD
576:ICD
484:at
453:doi
318:doi
279:doi
2529::
1149:/
997:/
911:/
889:/
873:/
652::
628::
617::
606::
595::
580:10
461:.
449:23
447:.
443:.
418:.
403:^
382:.
371:^
355:40
353:.
349:.
326:.
314:14
312:.
308:.
285:.
275:47
273:.
248:.
95:,
2444:/
2435:)
1936:/
1930:/
1910:/
1553:e
1546:t
1539:v
1483::
1459::
859:e
852:t
845:v
773::
755::
737::
724::
689:e
682:t
675:v
590:-
578:-
568:D
531:.
469:.
455::
428:.
397:.
365:.
334:.
320::
293:.
281::
258:.
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
