Table 1: Some syndromes that include congenital vertebral malformations.

SyndromeOMIM referenceCorresponding gene(s)

Acrofacial dysostosis*263750
Aicardi*304050
Alagille118450JAGGED1, NOTCH2
Anhalt*601344
Atelosteogenesis III108721FLNB
Campomelic dysplasia114290SOX9
Casamassima-Morton-Nance*271520
Caudal regression*182940
Cerebro-facio-thoracic dysplasia*213980
CHARGE214800CHD7
“Chromosomal”
Currarino176450HLXB9
DeLa Chapelle*256050
DeGeorge/Sedlackova188400Microdeletion, 10p13-p14, 22q11.2,
Dysspondylochondromatosis*
Femoral hypoplasia-unusual facies*134780
Fibrodysplasia ossificans progressive135100ACVR1
Fryns-Moerman*
Goldenhar*(Oculo-auriculo-vertebral spectrum)164210
Incontinentia Pigmenti308300NEMO
Kabuki 147920MLL2
Kaufman-McKusick236700MKKS
KBG Syndrome*148050
Klippel-Feil*118100?PAXl, GDF6
Larsen150250FLNB
Lower mesodermal agenesis*
Maternal diabetes*
MURCS Association*601076
Multiple Pterygium Syndrome265000CHRNG
OEIS Syndrome*258040
Phaver*261575
Rapadilino266280RECQL4
Robinow268310ROR2
Rolland-Desbuquois*224400
Rokitansky Sequence*277000?WNT4
Silverman224410HSPG2
Simpson-Golabi-Behmel312870GPC3
Sirenomelia*182940
Spondylocarpotarsal Synostosis272460FLNB
Spondylocostal Dysostosis277300DLL3, MESP2, LFNG
Spondylothoracic Dysotosis*277300MESP2
Thakker-Donnai*227255
Toriello*
Urioste*
VATER/VACTERL*192350
Verloove-Vanhorick*215850
Wildevanck*314600
Zimmer*273395

*Underlying cause not known. Reproduced from Expert Opinion in Expert Opin. Med. Diagn. (2008) 2(10):1107-1121 with permission of Informa UK Ltd.