Ehlers-Danlos Syndrome Kyphoscoliotic Type

Kyphoscoliotic type EDS, Ehlers-Danlos syndrome hydroxylysine-deficient


Type of disease: Rare conditions

Ehlers-Danlos syndrome (EDS) is a rare tissue disorder that has six specific types. Ehlers-Danlos syndrome affects a person’s connective tissue, the tissue that separates, connects and supports different organs in the body. Collagen, the protein in connective tissue, is affected most by EDS. Depending upon the type of EDS an individual has, their skin, joins, muscles, ligaments, blood vessels, and visceral organs can be affected.

Kyphoscoliotic type EDS is a rare but severe type of EDS. Babies born with this type have weak muscle tone (hypotonia) and loose joints. The weak muscle tone leads to gross motor delays such as learning to roll over, sit, crawl or walk at later times than expected. The baby’s eyes may have very small corneas (microcornea). Scoliosis, or a curving of the spine, is present at birth and becomes progressively worse with age. This condition often becomes so severe between ages 10-30 years that the individual may no longer be able to walk. Later complications may include spontaneous arterial rupture, rupture of the sclera (white protective part of the eye) after minor trauma (due to it being fragile), and low bone mineral density (osteopenia). This type of EDS is caused by an error or mutation in the PLOD1 gene, which codes for a collagen modifying enzyme. Kyphoscoliotic type EDS is inherited in an autosomal recessive manner. A genetic counselor or specialist can help you understand the genetics. Diagnosis can be made through a special urine test. Although there is no cure at present, doctors may seek help from various therapists and specialists to help those affected. If your child or a family member has been diagnosed with kyphoscoliotic type EDS, talk with your doctor about the most current treatment options. Support groups are also a good source of support and information.

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