Ehlers-Danlos syndrome type VIIA, autosomal dominant

Pathology

• connective tissue disorder

Genetics

• mutation in COL1A1 gene or COL1A2 gene

Clinical manifestations

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

More general terms

• Ehlers-Danlos syndrome type VII

More specific terms

• Ehlers-Danlos syndrome type VII, autosomal dominant/COL1A1 mutation associated
• Ehlers-Danlos syndrome type VIIA, autosomal dominant/COL1A2 mutation associated

Database

• OMIM: https://mirror.omim.org/entry/130060
• OMIM: https://mirror.omim.org/entry/120150
• OMIM: https://mirror.omim.org/entry/120160