Nevo syndrome

Epidemiology

rare

Genetics

• autosomal recessive
• associated with defects in PLOD1 (lysyl hydroxylase 1)

Clinical manifestations

• increased perinatal length
• kyphosis
• muscular hypotonia
• joint laxity
• Nevo syndrome & Ehlers-Danlos syndrome type 6 have similar clinical phenotypes & may be same clinical entity

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/601451