Jansen’s metaphyseal chondrodysplasia is an extremely very rare autosomal dominant disease. It is a type of skeletal dysplasia characterized by short-limbed short stature, waddling gait, bowed legs, contracture deformities of the joints, short hands, clubbed fingers, clinodactyly, prominent upper face and small mandible features. Chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia are also common symptoms.
Currently, there are only 30 people in the world known to have Jansen’s disease but recent research, largely funded by the Jansen’s Foundation, has led to amazing breakthroughs in the pathophysiology of this disease as well as possible treatment options.
We talked with the founder of the Jansen’s Foundation, Neena Nizar, PhD, about the condition and the research currently underway to better understand this disease.
As Dr. Nizar explains, parathyroid hormone (PTH) receptors are overly stimulated in Jansen’s disease and that leads to a dramatic disruption of bone formation as well as the accumulation of calcium in the blood.
“Patients with Jenson’s lose bone faster than they can actually make it and so the ends of all the bones especially the growing long bones in their body are frayed and weak,” stated Dr. Nizar, adding “there’s excessive calcium in their blood levels that poisons their kidneys.”
While the Jansen’s Foundation has only been in existence since 2017, their organization has already received two large grants to fund research at the Boston Children’s Hospital and Harvard Medical School to find medications that can turn off the PTH receptor and eventually be used to development a treatment.
For more information, visit https://www.thejansensfoundation.org
