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Title
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Prader‑Willi Syndrome
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ImagePath
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System
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genomic imprinting disorder
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Overview
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Loss of paternally expressed genes on chromosome 15q11‑q13.
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Pathophysiology
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70 % paternal deletion; 25 % maternal uniparental disomy; remainder imprinting defects → ↓ hypothalamic satiety signals & endocrine dysfunction.
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Presentation
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Neonatal hypotonia, feeding difficulty → hyperphagia & obesity in childhood, short stature, hypogonadism, intellectual disability, almond‑shaped eyes.
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Diagnosis
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Methylation‑specific PCR or FISH for 15q11‑q13.
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Management
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Caloric restriction, growth hormone therapy, behavioral support.
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Epidemiology
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≈ 1 : 15 000 births.
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Tags
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