Spondyloenchondrodysplasia

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Spondyloenchondrodysplasia

Spondyloenchondrodysplasia (pronounced spon-dy-lo-en-kon-dro-dis-pla-sia) is a rare genetic disorder characterized by skeletal abnormalities and immune system dysfunction.

Etymology

The term "Spondyloenchondrodysplasia" is derived from the Greek words "spondylos" meaning vertebra, "enchondros" meaning cartilage, and "dysplasia" meaning abnormal growth or development.

Definition

Spondyloenchondrodysplasia is a form of skeletal dysplasia, which refers to a group of disorders related to the growth and development of bones and cartilage. It is characterized by abnormal bone development (enchondromatosis) in the spine (spondylo-) and other areas of the body, leading to skeletal deformities and short stature.

In addition to skeletal abnormalities, individuals with spondyloenchondrodysplasia often have an associated immune system dysfunction, which can lead to recurrent infections, autoimmune disorders, and an increased risk of developing certain types of cancer.

Symptoms

Symptoms of spondyloenchondrodysplasia can vary widely among individuals but commonly include:

  • Short stature
  • Skeletal deformities
  • Recurrent infections
  • Autoimmune disorders

Diagnosis

Diagnosis of spondyloenchondrodysplasia is typically based on a combination of physical examination findings, medical history, and imaging studies such as X-rays or MRI. Genetic testing can confirm the diagnosis.

Treatment

Treatment for spondyloenchondrodysplasia is primarily supportive and focuses on managing symptoms. This may include physical therapy, pain management, and treatment of any associated immune system disorders.

Related Terms

External links

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