Archives: Conditions A-Z
Severe combined immunodeficiency
Profound T-cell (and often B/NK) deficiency presenting with life-threatening infections in infancy; newborn-screened.
Stargardt disease
Commonest inherited macular dystrophy of juvenile onset.
Stickler syndrome
Collagenopathy with ocular, auditory, skeletal and orofacial features.
Systemic sclerosis
Autoimmune connective-tissue disease with fibrosis of skin and internal organs and vasculopathy.
Takayasu arteritis
Granulomatous large-vessel vasculitis affecting the aorta and branches, mainly in young women.
Stiff-person syndrome
Rare autoimmune disorder with progressive axial rigidity and painful spasms triggered by stimuli.
Treacher Collins syndrome
Craniofacial disorder of the first/second branchial arches.
Thrombotic thrombocytopenic purpura
A thrombotic microangiopathy from ADAMTS13 deficiency; urgent plasma exchange with immunosuppression is the mainstay, with a targeted adjunct.
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