monogenic diseases - symptoms

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• dwarfism, disproportionate short-stature condition (limbs are shorter in proportion to the trunk) achondroplasia
• short stature, shortening of limbs, scoliosis hypochondroplasia
• severe achondroplasia with developmental delay and acanthosis nigricans saddan
• short limb, narrow chest with short ribs, large head with flattened face, respiratory insufficiency thanatophoric dysplasia
• premature coronary heart disease or death due to myocardial infarction, aortic root more prone to develop atherosclerotic plaque at an early age (homozygous state) familial hypercholesterolemia
• cutaneous manifestations (increased photosenitivity, scarring of sun-exposed areas), acute exacerbations (abdominal pain, dark urine) variegate porphyria
• cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis haemochromatosis
• triad (pulmonary disease, pancreatic insufficiency, elevated concentrations of cloride/sodium in sweat), damage to respiratory system cystic fibrosis
• impaired postnatal cognitive development (bc neurotoxic effect), mental retardation, light pigmentation, eczema, epilepsy phenylketonuria
• triad (cardiomyopathy, skeletal myopathy), mental retardation, hyperlipidaemia danon disease
• infertility azoospermia, oligozoospermia
• shortening of long bones, short stature, muscle hypertrophy leri weil syndrome
• • Problems to distinguish between some shades of red, yellow and green daltonism
• prolonged bleeding from wounds haemophilia A
• variable phenotype of haemorrhage into joints and muscles, easy bruising, prolonged bleeding from wounds haemophilia B

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