Ehlers-Danlos syndrome type VI

Genetics

• associated with defects in PLOD1 (lysyl hydroxylase 1)

Clinical manifestations

• scoliosis may result in respiratory impairment
• ocular fragility
• keratoconus (cone-shaped deformity of the cornea)
• the eye may rupture with minimal trauma
• sclera may be blue
• retinal detachment
• Nevo syndrome & Ehlers-Danlos syndrome type 6 have similar clinical phenotypes & may be same clinical entity

More general terms

• Ehlers-Danlos syndrome; cutis elastica (EDS)

More specific terms

• Ehlers-Danlos syndrome type VI, lysyl hydroxylase deficiency associated

Database

• OMIM: https://mirror.omim.org/entry/225400