Distal arthrogryposis (DA) is a heterogeneous group of disorders with congenital, nonprogressive contractures affecting the joints of distal extremities. About 13 distinct subtypes have been defined based on phenotypic features and the different genes known to be causative typically encode for sarcomeric proteins of the contractile apparatus. Although most subtypes are inherited in autosomal dominant manner, distal arthrogryposis type 5D (DA5D) is the only type inherited as an autosomal recessive disorder with a prevalence of ECEL1 gene. All of them exhibited the distal arthogryposis involving hands and feet, scoliosis, unilateral drooping shoulder, ptosis, central furrow over tip of the tongue and typical facial features.
展开▼
