Table 2b.

Other Syndromes/Conditions That Include M-SDV (SCDO and STD excluded)

Syndrome/Condition
22q11.2 deletion syndrome (DiGeorge syndrome / velocardiofacial syndrome)
Chromosome abnormalities
Maternal diabetes mellitus
Syndromes of unknown genetic causeCasamassima-Morton-Nance syndrome (OMIM 271520) (SDV & urogenital anomalies)
Cleft-limb-heart malformation syndrome (OMIM 215850)
Dyssegmental dysplasia, Rolland-Desbuquois type (OMIM 224400)
Facial dysmorphism with multiple malformations (OMIM 227255)
Femoral hypoplasia-unusual facies syndrome (OMIM 134780)
Lower mesodermal agenesis
OEIS complex (OMIM 258040)
Phaver syndrome (OMIM 261575)
Spinal dysplasia, Anhalt type (OMIM 601344)
Limb deficiency-vertebral hypersegmentation-absent thymus 1
VATER/VACTERL (OMIM 192350)
Wildervanck syndrome (OMIM 314600)

M-SDV = multiple segmentation defects of the vertebrae; SCDO = spondylocostal dysostosis; STD = spondylothoracic dysostosis

1.

From: Spondylocostal Dysostosis, Autosomal Recessive

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