Jansen's metaphyseal chondrodysplasia JMC synonyms
What other names are the Jansen's metaphyseal chondrodysplasia JMC known by? Synonyms and other terms with which Jansen's metaphyseal chondrodysplasia JMC is known.
Jansen's metaphyseal chondrodysplasia (JMC), also known as metaphyseal dysplasia type Jansen, is a rare genetic disorder that affects bone development. It is characterized by abnormal growth and development of the long bones in the body, particularly the metaphyses, which are the wider parts of the bone near the growth plates.
Individuals with JMC typically present with short stature, bowed legs, and joint pain. The condition is usually evident at birth or becomes apparent during early childhood. Other common features include an enlarged head, a prominent forehead, and a flattened bridge of the nose. Some individuals may also experience hearing loss and dental abnormalities.
JMC is caused by mutations in the PTH1R gene, which provides instructions for making a protein involved in the regulation of bone growth and development. These mutations lead to overactivity of the protein, disrupting the normal process of bone formation and remodeling.
Diagnosis of JMC is based on clinical features, radiographic findings, and genetic testing. X-rays of the affected bones typically show characteristic changes, such as irregular metaphyses and flaring of the long bones. Genetic testing can confirm the presence of PTH1R gene mutations.
Management of JMC is focused on addressing the symptoms and complications associated with the condition. This may involve physical therapy to improve mobility and strengthen muscles, orthopedic interventions to correct skeletal abnormalities, and hearing aids or other interventions for hearing loss. Regular monitoring of bone health and growth is important to identify and manage any complications that may arise.
While there is currently no cure for JMC, ongoing research is aimed at understanding the underlying mechanisms of the condition and developing potential targeted therapies. Genetic counseling is recommended for affected individuals and their families to understand the inheritance pattern and the risk of passing the condition to future generations.
