Pycnodysostosis
Pycnodysostosis (pronounced: pik-no-dys-ostosis) is a rare genetic disorder that affects the bones and connective tissues.
Etymology
The term "Pycnodysostosis" is derived from the Greek words "pyknos" meaning dense, "dys" meaning bad or poor, and "ostosis" referring to the condition of the bone.
Definition
Pycnodysostosis is a condition characterized by short stature and osteosclerosis, a condition that results in abnormally dense bone, which is prone to fracture. The disease is also characterized by distinctive facial features including a large head, underdeveloped facial bones, a 'beaked' nose, and separation between the bones of the skull.
Symptoms
The symptoms of Pycnodysostosis include:
- Short stature
- Increased bone density
- Frequent bone fractures
- Distinctive facial features
- Dental abnormalities such as delayed loss of primary teeth and issues with permanent teeth
Causes
Pycnodysostosis is caused by mutations in the CTSK gene. This gene provides instructions for making an enzyme called cathepsin K, which plays a role in the process of bone remodeling - a process that involves the breakdown and rebuilding of bone tissue. Mutations in the CTSK gene disrupt the normal function of cathepsin K, leading to the characteristic features of Pycnodysostosis.
Diagnosis
Diagnosis of Pycnodysostosis is typically based on the physical symptoms and confirmed by genetic testing to identify mutations in the CTSK gene.
Treatment
There is currently no cure for Pycnodysostosis. Treatment is focused on managing symptoms and preventing complications, such as fractures and dental issues. This may include physical therapy, dental care, and in some cases, surgery to repair fractures or correct bone abnormalities.
See Also
External links
- Medical encyclopedia article on Pycnodysostosis
- Wikipedia's article - Pycnodysostosis
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