Jansen type metaphyseal chondrodysplasia
Overview
A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities.
Symptoms
* Extremely short stature * Small face * Immature facial appearance * Prominent eyes * Supraorbital hyperplasia * Frontonasal hyperplasia * Small jaw * Lack of metaphyseal ossification * Small thoracic cage * Flexion deformities of joints * Squatting stance * Para-articular widening of legs * Waddling gait * Clinodactyly * Short fingers * Clubbed fingers * Hyperostosis of calvarium * Thick dense skull base * Hypercalcemia * Deafness * Short long bones * Bowed long bones
Treatment
There is no known treatment at present, although some investigators have tried to lessen the hypercalcemia with various forms of bisphosphonates.