“…DA5D is clinically characterized by congenital distal joint contractures, knee extension contractures, furrowed tongue, scoliosis, ptosis, and other eye abnormalities (Patil et al, ), but many additional symptoms are reported (McMillin et al, ). To date, there are 39 DA type 5D patients published (Barnett et al, ; Bayram et al, ; Dieterich et al, ; Hamzeh et al, ; McMillin et al, ; Patil et al, ; Shaaban et al, ; Shaheen et al, ), and lately several independent groups have reported endothelin‐converting enzyme‐like 1 ( ECEL1 ), encoding a membrane‐bound metalloprotease, as the responsible gene. Patients with ECEL1 mutations show an autosomal recessive inheritance pattern and commonly display limb contractures, and severe skeletal muscle atrophies (Dieterich et al, ).…”