Ulnar/Fibular Ray Defect and Brachydactyly

Ulnar/fibular ray defect and brachydactyly is a rare congenital limb anomaly that involves the absence or underdevelopment of the ulna and/or fibula bones in the forearm and lower leg with a prevalence of 1 in 1000000. Brachydactyly is a condition characterized by abnormally short fingers and toes. Both conditions can occur alone or in combination. It presents with shortening of the metacarpals and phalanges in the ulnar ray in association with moderately short stature, abnormalities of growth, and related to several malformations that can significantly impact a person's quality of life. This disease was first described by Morava et al. in 2003 with variable expression in a 3-generation family (Morava et al. 2003; Orphanet 2017).