Scientifica

Review Article

Genetic Aspects of Congenital and Idiopathic Scoliosis

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.