lysyl hydroxylase 3 deficiency; bone fragility with contractures, arterial rupture & deafness

Pathology

• failure of lysyl hydroxylation & hydroxylysyl carbohydrate addition
• especially involves COL2A1

Genetics

• associated with defects in PLOD3

Clinical manifestations

• congenital malformations severely affecting many tissues & organs
• features of several collagen disorders
• bone fragility
• contractures
• arterial rupture
• deafness

More general terms

• genetic disease of connective tissue
• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/612394