MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

Definition

A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia.