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GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, kyphoscoliotic type 1

Summary

Excerpted from the GeneReview: PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive generalized connective tissue disorder characterized by hypotonia, early-onset kyphoscoliosis, and generalized joint hypermobility in association with skin fragility and ocular abnormality. Intelligence is normal. Life span may be normal, but affected individuals are at risk for rupture of medium-sized arteries. Adults with severe kyphoscoliosis are at risk for complications from restrictive lung disease, recurrent pneumonia, and cardiac failure.

Genes See tests for all associated and related genes

  • Also known as: EDS6, EDSKCL1, LH, LH1, LLH, PLOD, PLOD1
    Summary: procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

Clinical features

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