Ectopic mineralization of elastic fibers affecting skin, eyes and vessels.
Group of inherited retinal dystrophies with progressive rod-cone photoreceptor degeneration.
Commonest intraocular childhood cancer arising from the retina.
An X-linked neurodevelopmental disorder almost exclusively affecting girls; a targeted therapy is now approved.
Multisystem granulomatous disease most often affecting lungs and lymph nodes.
Commonest soft-tissue sarcoma of childhood arising from skeletal-muscle precursors.
Autoimmune exocrinopathy causing dry eyes and mouth, with systemic and lymphoma risk.
Malabsorption following extensive small-bowel loss, often requiring parenteral nutrition.
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