Which inherited disorders can affect the primary structure of connective tissue?

Hereditary disorders of connective tissue are a group of single-gene-determined conditions that affect the primary structural elements of connective tissue, specifically collagen, elastin, or ground substance [glycosaminoglycans].2

Key inherited disorders affecting the primary structure of connective tissue include:

• Marfan syndrome: Caused by a defect in the production of fibrillin, leading to skeletal, cardiovascular, and ocular abnormalities.12
• Ehlers-Danlos syndrome: Characterized by abnormal skin elasticity and joint hypermobility, likely involving the abnormal organization of collagen bundles.2
• Osteogenesis imperfecta: A disorder involving the synthesis of collagen, resulting in brittle, fracture-prone bones.23
• Homocystinuria: An autosomal recessive disorder involving an enzyme deficiency that can resemble Marfan syndrome.2
• Alkaptonuria: A rare disorder where the accumulation of homogentisic acid leads to cartilage erosion and joint disease.2
• Pseudoxanthoma elasticum: Primarily affects the skin, eyes, and blood vessels due to the fragmentation of elastic fibers.2
• Mucopolysaccharidoses: A group of lysosomal storage disorders involving the abnormal metabolism of glycosaminoglycans.2
• Myositis ossificans progressiva: A condition where bone develops in tendons, fasciae, and muscle.2
• Familial osteochondritis dissecans: An inherited disease caused by a mutation in a cartilage protein.2