Ehlers-Danlos syndrome type VIIB, autosomal recessive

Pathology

• connective tissue disorder
• mention of procollagen N-proteinase deficiency

Genetics

• associated withdefects in COL1A2

Clinical manifestations

• hyperextensible skin
• atrophic cutaneous scars due to tissue fragility
• joint hyperlaxity
• bilateral congenital hip dislocation
• recurrent partial dislocations

More general terms

• Ehlers-Danlos syndrome type VII

Database

• OMIM: https://mirror.omim.org/entry/225410
• OMIM: https://mirror.omim.org/entry/130060