Velocardiofacial syndrome (Shprintzen-Goldberg syndrome)

Velocardiofacial syndrome

  • Congenital connective tissue disorder that presents with ocular hypertelorism, dysmorphic facies, craniosynostosis, intellectual disability, mild aortic root enlargement, and several skeletal features that are typical for patients with Marfan syndrome 
  • Most often caused by de novo mutations in SKI gene, which encodes a regulator protein of transforming growth factor β; an FBN1 mutation is implicated in case reports 
  • Common features include myopia, skeletal findings (eg, disproportionately long limbs, arachnodactyly, dolichocephaly, pectus deformity, scoliosis, pes planus, high-arched palate, joint hypermobility) and cardiovascular abnormalities (eg, mitral valve prolapse, aortic aneurysm) 
  • Differentiated from Marfan syndrome by other characteristic clinical findings not present in patients with Marfan syndrome, including craniosynostosis and other distinctive skeletal abnormalities (eg, contractures, C1/C2 spine malformation, square vertebral bodies, 13 pairs of ribs), intellectual disability, and brain anomalies (eg, hydrocephalus, dilation of lateral ventricles, Chiari malformation type I); ectopia lentis is absent and aortic root enlargement tends to be much less frequent and milder than in patients with Marfan syndrome 
  • Definitive diagnosis is made via sequence analysis of SKI gene to identify pathogenic mutations 

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