Kyphoscoliotic Ehlers-Danlos syndrome

Disease Overview

Kyphoscoliotic Ehlers-Danlos syndrome is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common signs and symptoms include hyperextensible skin that is fragile and bruises easily; joint hypermobility; severe hypotonia at birth; progressive kyphoscoliosis (kyphosis and scoliosis); and fragility of the sclera.[5984][8950] kyphoscoliosis EDS is caused by changes (mutations) in the PLOD1 gene or the FKBP14 gene  and it is inherited in an autosomal recessive manner.[5984][13312] Treatment is focused on preventing serious complications and relieving associated signs and symptoms.[5984][8955]

Synonyms

• Ehlers-Danlos syndrome type 6A
• Cutis hyperelastica
• kEDS-PLOD1
• Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency
• Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
• Lysyl hydroxylase-deficient EDS
• Ocular-scoliotic EDS
• Ehlers-Danlos syndrome, kyphoscoliosis type
• Kyphoscoliotic EDS
• kEDS
• EDS VIA
• EDS, kyphoscoliotic type
• EDS, oculoscoliotic type
• Ehlers-Danlos syndrome type 6A (formerly)
• Ehlers-Danlos syndrome, kyphoscoliotic type
• Ehlers-Danlos syndrome, oculoscoliotic type
• Nevo syndrome
• Ehlers-danlos syndrome oculoscoliotic type
• EDS 6 (formerly)
• Ehlers-Danlos syndrome type 6 (formerly)