Ulna metaphyseal dysplasia syndrome

Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.

Also known as: Rosenberg-Lohr syndrome, ulna metaphyseal dysplasia syndrome, Rosenberg Lohr syndrome, hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna, metaphyseal chondrodysplasia, Rosenberg type, metaphyseal chondroplasia Rosenberg type

0 clinical trials for this condition and its sub-types, 0 tagged with Ulna metaphyseal dysplasia syndrome itself.