Vishal Ashokraj Pushkarna¹ K Ravikanth², Nagendra Babu³

¹Postgraduate Student,²Assistant Professor,³Professor & Head, Department of Orthopedics, Prathima Institute of Medical Sciences, Karimnagar, Telanagana, India.

Address for correspondence: Dr. Vishal Ashokraj Pushkarna, Postgraduate Student, Department of Orthopedics, Prathima Institute of Medical Sciences, Karimnagar, Telanagana, India.

Email: vishalpusshkarna@hotmail.com

Introduction: Camptodactyly-Arthropathy-Coxa vara-Pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by mutations in PRG4 gene that encodes for proteoglycan 4, a mucin-like glycoprotein that is the major lubricant for joints and tendon surfaces. Till date only 15 disease causing mutation in PRG4 gene has been listed in the human genome mutation database. This disease causing mutation has been predicted to prematurely truncate the protein produced. We report here 2 children of the same family getting affected by multiple effusions of the large joints with deformities.

Keywords :Camptodactyly arthropathy coxa vara-pericarditis,Congenital familial hypertrophic synovitis, siblings