Review Article
Genetic Aspects of Congenital and Idiopathic Scoliosis
Table 1
Some syndromes that include congenital vertebral malformations.
| Syndrome | OMIM reference | Corresponding gene(s) |
| Acrofacial dysostosis* | 263750 | | Aicardi* | 304050 | | Alagille | 118450 | JAGGED1, NOTCH2 | Anhalt* | 601344 | | Atelosteogenesis III | 108721 | FLNB | Campomelic dysplasia | 114290 | SOX9 | Casamassima-Morton-Nance* | 271520 | | Caudal regression* | 182940 | | Cerebro-facio-thoracic dysplasia* | 213980 | | CHARGE | 214800 | CHD7 | “Chromosomal” | | | Currarino | 176450 | HLXB9 | DeLa Chapelle* | 256050 | | DeGeorge/Sedlackova | 188400 | Microdeletion, 10p13-p14, 22q11.2, | Dysspondylochondromatosis* | | | Femoral hypoplasia-unusual facies* | 134780 | | Fibrodysplasia ossificans progressive | 135100 | ACVR1 | Fryns-Moerman* | | | Goldenhar*(Oculo-auriculo-vertebral spectrum) | 164210 | | Incontinentia Pigmenti | 308300 | NEMO | Kabuki
| 147920 | MLL2 | Kaufman-McKusick | 236700 | MKKS | KBG Syndrome* | 148050 | | Klippel-Feil* | 118100 | ?PAXl, GDF6 | Larsen | 150250 | FLNB | Lower mesodermal agenesis* | | | Maternal diabetes* | | | MURCS Association* | 601076 | | Multiple Pterygium Syndrome | 265000 | CHRNG | OEIS Syndrome* | 258040 | | Phaver* | 261575 | | Rapadilino | 266280 | RECQL4 | Robinow | 268310 | ROR2 | Rolland-Desbuquois* | 224400 | | Rokitansky Sequence* | 277000 | ?WNT4 | Silverman | 224410 | HSPG2 | Simpson-Golabi-Behmel | 312870 | GPC3 | Sirenomelia* | 182940 | | Spondylocarpotarsal Synostosis | 272460 | FLNB | Spondylocostal Dysostosis | 277300 | DLL3, MESP2, LFNG | Spondylothoracic Dysotosis* | 277300 | MESP2 | Thakker-Donnai* | 227255 | | Toriello* | | | Urioste* | | | VATER/VACTERL* | 192350 | | Verloove-Vanhorick* | 215850 | | Wildevanck* | 314600 | | Zimmer* | 273395 | |
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*Underlying cause not known. Reproduced from Expert Opinion in Expert Opin. Med. Diagn. (2008) 2(10):1107-1121 with permission of Informa UK Ltd.
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