Cerebro-facio-articular syndrome

Disease Overview

Cerebro-facio-articular syndrome, which is also known as van Maldergem syndrome, is a rare condition that was first described in 1992. Key features of the condition include characteristic facial features, hand abnormalities, moderate to severe intellectual disability, poor muscle tone and joint hyperlaxity. Cerebro-facio-articular syndrome can be caused by changes (mutations) in the DCHS1 or FAT4 genes and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[13346][13347]

Synonyms

• Van Maldergem syndrome
• Cerebro-facio-articular syndrome of Van Maldergem
• Cerebrofacioarticular syndrome
• Van Maldergem Wetzburger Verloes syndrome