metaphyseal chondrodysplasia, Jansen type
Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.
MONDO:0009943
Pyle disease
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0005516
osteochondrodysplasia
is_a
Jansen Type Metaphyseal Chondrodysplasia
exact
Jansen type metaphyseal chondrodysplasia
exact
metaphyseal chondrodysplasia murk Jansen type
exact
metaphyseal chondrodysplasia, Jansen type
exact
metaphyseal chondrodysplasia, murk Jansen type
exact
murk Jansen type metaphyseal chondrodysplasia
exact