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Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Clinical dysmorphology - 1 Oct 2024

Singh Swati, Badiger Vaishnavi Ashok, Balan Suma, Nampoothiri Sheela, Rao Anand Prahalad, Shah Hitesh, Bhavani Gandham SriLakshmi, Narayanan Dhanya Lakshmi, Girisha Katta M

Abstract excerpt

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome (MIM# 208250) is a rare monogenic disorder, characterized by early onset of camptodactyly, progressive coxa vara, bilateral arthropathy and constrictive pericarditis. The syndrome is caused by biallelic loss-of-function variants in PRG4 . Deficiency of PRG4 results in progressive worsening of joint deformity with age. Thirteen individuals with CACP...

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PMID: 38856641
DOI: 10.1097/MCD.0000000000000500

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