Condition: Jansen Type Metaphyseal Chondrodysplasia

Use these Health Check-up tools to learn more

How are people coping?

Who else is affected?

Members in the community range from 2 to 6 years old

See them

How are you feeling?

About Jansen Type Metaphyseal Chondrodysplasia

Jansen type metaphyseal chondrodysplasia is an extremely rare progressive disorder in which portions of the bones of the arms and legs develop abnormally with unusual cartilage formations and subsequent abnormal bone formation at the large (bulbous) end portions (metaphyses) of these long bones (metaphyseal chondrodysplasia). As a result, affected individuals exhibit unusually short arms and legs and short stature (short-limbed dwarfism), findings that typically become apparent during early childhood. Abnormal cartilage and bone development may also affect other bones of the body, particularly those of the hands and feet (i.e., metacarpals and metatarsals). Infants with Jansen type metaphyseal chondrodysplasia may also have characteristic facial abnormalities and additional skeletal malformations. During childhood, affected individuals may begin to exhibit progressive stiffening and swelling of many joints and/or an unusual "waddling gait" and squatting stance. In addition, affected adults may eventually develop abnormally hardened (sclerotic) bones especially in the back of the head (cranial bones), which, in some cases, may lead to blindness and/or deafness. In addition, in some cases, affected individuals have abnormally high levels of calcium in the blood (hypercalcemia). The range and severity of symptoms may vary from case to case. Most cases of Jansen type metaphyseal chondrodysplasia occur randomly as the result of a spontaneous genetic change (i.e., new genetic mutation)

Most effective Jansen Type Metaphyseal Chondrodysplasia treatments reported by our membersLogin to add your rating >

  • How effective?
    How common?
    Description
  • No treatments have been listed

Most severe Jansen Type Metaphyseal Chondrodysplasia symptoms reported by our membersLogin to add your rating >

  • How severe?
    How common?
    Description
  • There have been no symptoms added by our members for this condition yet.

Connect with people like you when you join!

People near you with Jansen Type Metaphyseal Chondrodysplasia

Treatment Symptom Age Gender

Read what others are saying about Jansen Type Metaphyseal Chondrodysplasia

There are no comments yet. Be the first
There are no comments yet. Be the first

Join the conversation

You must be a member to join the conversation.

Join now for FREE to learn and share about your condition with other members

See questions people are asking. Or ask your own

There are no topics for this condition yet
advertisement
V2012.311.925.327
Last updated on May 10 2018 at 00:44
Disclaimer: The list and ratings above are for informational purposes only, and is intended to supplement, not substitute for, the expertise and judgment of your physician, pharmacist or other healthcare professional. The goal of the information is to provide you with a comprehensive view of all available treatments, but should not be construed to indicate that use of any one treatment is safe, appropriate, or effective for you. Decisions about use of a new treatment, or about a change in your current treatment plan, should be in consultation with your doctor or other healthcare professional.