Ulna metaphyseal dysplasia syndrome

Orpha code: 1837OMIM code: 191420

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
Rosenberg-Lohr syndrome
Zespół Rosenberga i Lohra
Kod ORPHA
1837
Kod OMIM
191420
Kod ICD10
Q78.5
Kod ICD11
LD24.7

No additional description.

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