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References OMIM Gene GeneReviews HGMD HGNC
last update : 06-03-2017
Symbol BRKS1
Location 17q21.2
Name Bruck syndrome 1
Other name(s) Kuskokwim disease
Corresponding gene FKBP10
Main clinical features
  • syndromic form of osteogenesis imperfecta (OI) that is characterized by the additional presence of pterygium formation
  • congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis
  • osteoporosis, fragile bones with congenital contractures of the large joints and short stature associated
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease
  • mutations in FKBP10 affect protease sensitivity of the type I collagen triple helix (PMID: 22949511))