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GENATLAS PHENOTYPE
last update : 21-09-2011
Symbol GLSD2
Location 15q21.1
Name geleophysic dysplasia 2
Corresponding gene FBN1
Other symbol(s) GPHYSD2
Main clinical features
  • happy faces , dysostosis-multiplex-like changes, predominantly in the hands and feet, short stature, small hands and feet with broad proximal phalanges, cone-shaped epiphyses, delayed bone age and shortened tubular bones, and an apparently focal accumulation of acid mucopolysaccharides in the liver and possibly the cardiovascular system
  • small hands and feet were evident at birth, joint contractures affected particularly the fingers, hepatomegaly and cardiomegaly; urinary excretion of mucopolysaccharides was normal
  • biopsy material has shown abundant lysosome-like vacuoles in hepatocytes, fibroblasts and macrophages suggestive of a storage disorder
  • Mild facial features and tip-toe walking
    • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    Type disease
    Gene product
    Name Fibrillin 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/gain of function  
    Remark(s)
  • heterozygous FBN1 mutations, located in exons 41 and 42 which encode TGFâ-binding protein-like domain 5 (TB5) of FBN1