What is epiphyseal dysgenesis?

Multiple epiphyseal dysplasia is a condition that affects the ends of the long bones, otherwise known as epiphysis. The condition results from a problem in the cartilage oligomeric matrix protein, which accumulates in the cartilage and causes premature destruction, and can lead to early arthritis.

What is Fairbanks syndrome?

Fairbank’s disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.

What does epiphyseal mean?

1 : a part or process of a bone that ossifies separately and later becomes ankylosed to the main part of the bone especially : an end of a long bone. 2 : pineal gland.

What is epiphyseal closure?

Called closure of the epiphyseal plate, this marks the end of growth of that particular bone. Estrogen in both sexes is critical for proper closure of the epiphyseal plate and the cessation of growth. In its absence, growth continues into adulthood.

How do you test for multiple epiphyseal dysplasia?

Molecular genetic testing can support a diagnosis of multiple epiphyseal dysplasia. Molecular genetic testing can detect mutations in the specific genes known to cause the disorder, but it is only available as a diagnostic service at specialized laboratories.

Where is the epiphyseal line?

An epiphyseal line is an epiphyseal plate that has become ossified. The process of it forming from an epiphyseal plate is named epiphyseal closure. In adult humans, it marks the point of fusion between the epiphysis and the metaphysis.

What is metaphyseal Dysostosis?

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood.

What is epiphyseal injury?

Growth plates and epiphyses are areas located at the ends of long bones, in which new bone is produced. Pre-adolescent and adolescent bones are not yet mature and trauma can lead to disruption of bone growth patterns by causing the growth plate to close prematurely.

Why is the epiphyseal line important?

Function. The epiphyseal line serves no function in the bone, being purely vestigial. However, it serves as an indicator of the boundary between the epiphysis and diaphysis.

When does epiphyseal closure occur?

This replacement is known as epiphyseal closure or growth plate fusion. Complete fusion can occur as early as 12 for girls (with the most common being 14-15 years for girls) and as early as 14 for boys (with the most common being 15–17 years for boys).