Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome

Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.

Also known as: IDMDC

0 clinical trials for this condition and its sub-types, 0 tagged with Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome itself.