autosomal recessive cutis laxa type IB

An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11

An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.

Signs and symptoms

• Dermal translucency
• Right ventricular dilatation
• Hypotonia
• Aortic root aneurysm
• Spina bifida
• Generalized arterial tortuosity
• Bradycardia
• Ascending tubular aorta aneurysm
• Tricuspid regurgitation
• Pectus excavatum

Also known as: ARCL1B