Mesomelia-synostoses syndrome

A syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.

Also known as: 8q13 microdeletion syndrome, Del(8)q(13), Verloes-David syndrome, mesomelia-synostoses syndrome, mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type, mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type, monosomy 8q13, chromosome 8Q13 deletion syndrome

37 clinical trials for this condition and its sub-types.