Ehlers-Danlos syndrome type VIIC, autosomal recessive

Genetics

• associated with defects in ADAMTS2

Clinical manifestations

• hyperextensible skin
• joint hyperlaxity
• extremely fragile tissues
• easy bruising
• facial skin contains numerous folds, as in the cutis laxa syndrome

More general terms

• Ehlers-Danlos syndrome type VII

Database

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