Ehlers-Danlos syndrome classic type 1

info · Genetic

An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34.

Signs and symptoms

Cigarette-paper scars
Epicanthus
Floppy infant
Poor wound healing
Inguinal hernia
Short stature
Recurrent lower respiratory tract infections
Fragile skin
Joint dislocation
Hyperextensibility of the knee

Also known as: Ehlers-Danlos syndrome, type 1; type I Ehlers-Danlos syndrome