Spondyloepiphyseal dysplasia, kimberley type

Overview

Type of disease: Genetic, autosomal dominant | Rare conditions

Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is a rare disease that begins soon after birth. A person with SEDK will be shorter and stockier than most other people. SEDK will also cause problems with bone development and health.

Someone with SEDK will have early-onset progressive osteoarthropathy in their weight-bearing joints. Progressive osteoarthropathy is when bones break down and change shape. This can cause the weight-bearing joints, such as the ankles, knees, and hips, to not work as well. Progressive osteoarthropathy usually happens when someone is older. It is called “early-onset” progressive osteoarthropathy in someone with SEDK because it begins at a younger age.

SEDK causes the spine to be shaped differently than most other people’s. The spine is a series of bones that runs along a person’s back. SEDK causes the spine to have scoliosis. This means that the spine will be curved instead of straight. SEDK also causes the bones that make up the spine, called vertebrae, to be flat. Someone with SEDK will have femurs (thigh bones) that are shaped differently than most other people’s.

SEDK is passed down from parents to their children through genes. Genes are segments of DNA that act as the body’s instruction manual. DNA is a “code” made up of small parts called nucleotides. A gene mutation is when one or more nucleotides in the DNA “code” that makes up a gene is changed. SEDK is caused by a mutation in a gene called AGC1. A person receives genes from both parents. SEDK is inherited in an autosomal dominant pattern. This means that a child inherits one mutated AGC1 gene from one parent in order to have SEDK.

If you or a family member has been diagnosed with spondyloepiphyseal dysplasia, Kimberley type, talk to your doctor about the most current treatment options. Support groups are also good sources of support and information.

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