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GENATLAS PHENOTYPE
last update : 14-01-2012
Symbol WMSAD
Location 15q21.1
Name Weill-Marchesani syndrome
Other name(s)
  • spherophakia-brachymorphia syndrome
  • mesodermal dysmorphodystrophy, congenital
  • Corresponding gene FBN1
    Other symbol(s) WMS, WMS1
    Main clinical features
  • short stature, brachydactyly, joint stiffness and characteristic eye abnormalities (ectopia lentis, glaucoma, microspherophakia)
  • repeated attacks of acute congestive glaucoma starting in early childhood (PMID: 21402694))
  • Genetic determination autosomal dominant
    Function/system disorder eye
    congenital malformation
    Type disease
    Gene product
    Name fibrilin 1
    Remark(s)