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References OMIM Gene GeneReviews HGMD HGNC
last update : 28-09-2021
Symbol LDS5
Location 14q24.3
Name Loeys-Dietz syndrome 5
Other name(s) RIENHOFF syndrome
Corresponding gene TGFB3
Main clinical features
  • syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture
  • ther systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity
  • Genetic determination
    Function/system disorder
    Type disease