Science Quiz / DEAD GIVEAWAY-Genetic Disease

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Can you name the DEAD GIVEAWAY-Genetic Disease?

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HintAnswer
maple syrup urine
Musty urine
Jaundice
hypoketotic hypoglycemia (2)
hyperammonia
high pitched cry
ragged red fibers
Marfanoid body habitus (tall, thin) (4)
Cleft palate (2)
rocker bottom feet (2)
feet with high arches or flat feet
webbed neck, broad chest with widely spaced nipples
Elfin Faces
Renal cysts
COPD
pulmonary fibrosis
Gower's sign, calf hypertrophy (2)
dementia
HintAnswer
Pituitary, Parathyroid, Pancreaticoduodenal endocrine tumors
Sun-sensitive malignances (2)
large number of colonic polyps
xanthomas (lipid deposits under the skin)
lisch nodules on iris
cataracts (3)
Corneal clouding (opaque cornea, not lens)
white pupil
blue sclera
cherry-red spot on macula (2)
kinky hair
gargoylism, macrocephaly, flattened nasal bridge
gargoylism with no corneal clouding
dry skin, freckled face
freckling in non-sun exposed regions
angiokeratomas (vascular cutaneous lesions)
chorea

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