Ehlers-Danlos Syndrome, Kyphoscoliosis Type

What is Ehlers-Danlos syndrome, kyphoscoliosis type?

Ehlers-Danlos syndrome is a group of inherited disorders that affect connective tissue, the tissue that binds and supports the body's muscles, ligaments, organs, and skin. The kyphoscoliosis type is characterised by progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness. This form of Ehlers-Danlos syndrome was formerly called type VI or the ocular-scoliotic type.

Ehlers-Danlos syndrome, kyphoscoliosis type is a subtype of Ehlers-Danlos syndrome.

The most common signs and symptoms of this condition are loose joints with frequent dislocations, weak muscle tone in infants (which can make them seem "floppy"), muscle weakness, and progressive curvature of the spine from early childhood. People with the disorder often become unable to walk by their teens or twenties as symptoms progress. The condition also affects the eyes, causing vision loss in some cases. The eyeball is fragile and easily damaged, and the clear front part of the eye (the cornea) may be smaller than normal or unusually shaped.

Other features of the disorder include soft, velvety skin that is stretchy and prone to bruising and scarring. People with the condition may have a Marfan-like appearance—tall, with long limbs, fingers, and toes. Osteoporosis, a disorder that weakens bones, is also common. The most serious complication of this disorder is unpredictable tearing of arteries. A torn artery can cause life-threatening internal bleeding, stroke, or shock.

How common is Ehlers-Danlos syndrome, kyphoscoliosis type?

This form of Ehlers-Danlos syndrome is very rare; fewer than 60 cases have been reported worldwide.

What genes are related to Ehlers-Danlos syndrome, kyphoscoliosis type?

Mutations in the PLOD1 gene cause Ehlers-Danlos syndrome, kyphoscoliosis type.

The enzyme made by the PLOD1 gene, lysyl hydroxylase 1, is essential for forming stable cross-links, or chemical interactions, between molecules of collagen. Collagen provides structure and strength to connective tissue throughout the body. If a gene mutation reduces or eliminates the enzyme's activity, the network of collagen cross-links is altered. These changes weaken connective tissue and cause the signs and symptoms of the condition.

In rare cases, people with the features of Ehlers-Danlos syndrome, kyphoscoliosis type have normal activity of the lysyl hydroxylase 1 enzyme. The cause of the disorder in these cases is unknown.

How do people inherit Ehlers-Danlos syndrome, kyphoscoliosis type?

This type of Ehlers-Danlos syndrome is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.

What other names do people use for Ehlers-Danlos syndrome, kyphoscoliosis type?

  • EDS type VI
  • Ehlers-Danlos syndrome, kyphoscoliotic type
  • Ehlers-Danlos syndrome, ocular-scoliotic type
  • Ehlers-Danlos syndrome, oculoscoliotic type
  • Ehlers-Danlos syndrome, type VI
  • Ehlers-Danlos syndrome, type VIA
  • Lysyl-hydroxylase deficiency

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