IllnessBruck syndrome 1/Kuskokwim syndrome/Bruck syndrome 2

NGS +

Bruck syndrome 1/Kuskokwim syndrome is characterized by contractures of the knees, ankles and elbows. This syndrome has been identified exclusively in a population of Alaska Native Eskimos, the Kuskokwim. The contractures are usually present at birth and worsen during childhood. After childhood, they usually stabilize, persisting throughout life. Some of these affected individuals have other bone abnormalities, usually involving the spine, pelvis and feet. The patients may develop lordosis of the lower back, scoliosis, wedge-shaped vertebral bones or an abnormality of the clavicles called clubbing (hypertrophic osteoarthropathy). Affected individuals are usually smaller than their peers and sometimes have macrocephaly. Bruck syndrome 1/Kuskokwim syndrome is caused by mutations in the FKBP10 gene and is inherited in an autosomal recessive manner. It resembles other arthrogryposis-like disorders such as Bruck syndrome 2, which is caused by variations in the PLOD2 gene and is also inherited in an autosomal recessive manner.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1295/

• Alias: Kuskokwim-Syndrom (FKBP10)
• Alias: Osteogenesis imperfecta with congenital contractures of the large joints (PLOD2)
• Arthrogryposis-like disorder (PLOD2, FKBP10)
• Bruck syndrome 1 (FKBP10)
• Bruck syndrome 2 (PLOD2)
• Osteogenesis imperfecta, type XI (FKBP10)