Diagnosis typically occurs during infancy or early childhood and is based around physical characteristics and symptoms. X-rays may reveal abnormal development of the bulbous ends of the metaphyses of the limb bones. Tests that detect hypercalciuria and hypercalcaemia are also helpful in the diagnosis.
Jansen's metaphyseal chondrodysplasia
Sprengel's deformity
Metaphyseal chondrodysplasia Schmid type
Achondrogenesis type 2
Majewski's polydactyly syndrome
Achondrogenesis type 1B
Tailor's bunion
Léri–Weill dyschondrosteosis