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GENATLAS PHENOTYPE
last update : 23-01-2009
Symbol EDS7C
Location 5q23
Name Ehlers-Danlos syndrome, type VIIC
Other name(s) Ehlers-Danlos syndrome, dermatosparaxis type
Corresponding gene ADAMTS2
Other symbol(s) EDSVIIC
Main clinical features
  • extreme skin fragility, severe loose-jointedness and mild stretchability and bruisability of the skin, in any cases congenital non-traumatic skull fractures
  • may be associated to short stature, epicanthal folds, depressed nasal bridge, micrognathia
  • homologous to dermatosparaxis in cattle
    • Genetic determination autosomal recessive
    Function/system disorder connective tissue
    dermatology
    Type disease
    Gene product
    Name procollagen amino peptide processing enzyme
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   unknown  
    deletion   truncated protein create premature stop codons leading to a marked reduction in the level of mRNA
    Remark(s)