Ehlers-Danlos syndrome classic-like 1

info · Genetic

An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21.

Signs and symptoms

Joint hypermobility
Bruising susceptibility
Hyperextensible skin
Soft skin
Joint subluxation
Hiatus hernia
Vesicoureteral reflux
Unilateral renal agenesis
Ambiguous genitalia, female
Quadricuspid aortic valve