Upington disease
Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.
MONDO:0019708
obsolete primary bone dysplasia with disorganized development of skeletal components (obsolete MONDO:0019708)
excluded_subClassOf
MONDO:0002081
musculoskeletal system disorder
is_a
MONDO:0003847
hereditary disease
is_a
Upington disease
exact
familial dyschondroplasia
related
hip dysplasia-enchondromata-ecchondroma syndrome
exact