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.
MONDO:0005516
osteochondrodysplasia
is_a
Rosenberg Lohr syndrome
related
Rosenberg-Lohr syndrome
exact
hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna
related
metaphyseal chondroplasia Rosenberg type
related
ulna metaphyseal dysplasia syndrome
exact