Type: Connective Tissue
Ehlers-Danlos syndromes
Heritable connective-tissue disorders with joint hypermobility, skin hyperextensibility and tissue fragility; vascular type carries arterial rupture risk.
Fibrodysplasia ossificans progressiva
Progressive heterotopic ossification of soft tissue, with characteristic great-toe malformation.
Pseudoxanthoma elasticum
Ectopic mineralization of elastic fibers affecting skin, eyes and vessels.
Stickler syndrome
Collagenopathy with ocular, auditory, skeletal and orofacial features.
X-linked hypophosphatemia
Commonest inherited rickets from FGF23 excess and renal phosphate wasting.
Marfan Syndrome
A heritable connective-tissue disorder affecting the cardiovascular system, eyes and skeleton; aortic complications are the main cause of mortality.
Ehlers-Danlos Syndrome
A group of heritable connective-tissue disorders affecting collagen; management is largely supportive and type-specific.
Scleroderma
What is Scleroderma? Scleroderma, also known as systemic sclerosis (SSc), is a rare autoimmune connective tissue disorder characterized by widespread…