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GENATLAS PHENOTYPE
last update : 31-03-2010
Symbol ACRG
Location 2q32.2
Name acrogeria, Gottron type
Other name(s)
  • metageria
  • acrometageria
    • Corresponding gene COL3A1
    Main clinical features
  • aged facies, scoliosis, wrinkled skin of the feet and hands, joint hypermobility, and mental retardation, with skin atrophy of the distal limbs, brownish discoloration of the skin of the anterior aspects of the legs with bruising and ulcerations
    • Genetic determination autosomal recessive
    autosomal dominant
    Related entries see Ehlers-Danlos syndrome, type IV (EDS4A)
    Function/system disorder connective tissue
    Type disease
    Remark(s)