Archives: Conditions A-Z
Becker muscular dystrophy
Milder allelic Duchenne variant; later onset, slower progression, cardiomyopathy may dominate.
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Cri-du-chat syndrome
Deletion of short arm of chromosome 5 with characteristic high-pitched cat-like cry.
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Cornelia de Lange syndrome
Multisystem developmental disorder with distinctive facies, growth restriction and limb anomalies.
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Fragile X syndrome
An X-linked trinucleotide-repeat disorder; management is supportive with behavioural, educational and developmental therapies.
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Eosinophilic granulomatosis with polyangiitis
An eosinophil-rich ANCA-associated vasculitis; anti-IL-5 therapy reduces relapses and steroid burden.
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Dermatomyositis
Idiopathic inflammatory myopathy with proximal weakness and characteristic skin findings.
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Eosinophilic esophagitis
Chronic immune-mediated esophageal inflammation with eosinophilic infiltration.
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