Jansen Disease

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Jansen Disease

Jansen disease is a skeletal abnormality in which the epiphyses are normal, but the metaphyseal tissues are replaced by masses of cartilage, producing interference with endochondral bone formation, expansion and thinning of the metaphyseal cortices. It is also known as Jansen metaphyseal dystotosis. Murk Jansen Type Metaphyseal chondordysplasia, JMC

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Jansen disease is rare progressive disorder in which the potions of bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the end portions of long bones. This occurs due to genetic mutation.

It is an autosomal dominant human disorder featured by short lined dwarfism due to delayed chondorcyte differentiation and is associated with severe hypercalcemia and hypophosphatemia with normal or undetectable serum levels of para thyroid hormone.

Jansen disease

Signs and symptoms

Short arms
Short legs
Short stature
Stiffening of joints
Swelling of joints
Micrognathia
Prominent eyes
High skull vault
Bell shaped thorax
Hypertelorism
Widening of costochondral junctions
Prominent cheeks
High arched palate
Wide cranial sutures
Waddling gait
Squatting stance
Facial abnormalities
Skeletal malformation
Abnormal hardening of sclerotic bones in the back of neck
Blindness
Deafness

Diagnosis:

Radiological studies of bones
Serum calcium and phosphorous level
Increased calcium level (hypercalcemia)
Raised serum alkaline phosphatase activity
Increased osteocalcin concentrations
Iliac crest biopsy

Treatment:

There is no specific treatment for this disorder.

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abnormal cartilage formation

Bones Muscle and Joints disorder

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