tendinous calcinosis arthropathy & progeroid features (TCAPF)

Genetics

• autosomal recessive
• associated with defect in LMNA gene

Clinical manifestations

• arthropathy affecting predominantly the distal femora & proximal tibia in the knees with tendinous calcifications
• progeroid appearance
  • pinched nose
  • micrognathia
  • cataract
  • alopecia
• generalized lipodystrophy
• sclerodermatous skin

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/611618