[Durgical](https://durgical.com/en/) › [DurgiPedia](https://durgical.com/en/durgipedia/) › [Medical genetics](https://durgical.com/en/genetics/) › Clinical cases # Clinical cases Genetic disorders to practise on: inheritance, diagnosis and risk to the family. 25 pages - [**Achondroplasia** Achondroplasia is the most common inherited form of short-limbed dwarfism](https://durgical.com/en/conditions/achondroplasia/) - [**Age-related macular degeneration** Age-related macular degeneration is wear of the macula, the centre of the retina, in older…](https://durgical.com/en/conditions/age-related-macular-degeneration/) - [**Alzheimer disease** Alzheimer disease is the most common cause of dementia; it usually starts with forgetting recent…](https://durgical.com/en/conditions/alzheimer-disease/) - [**Charcot-Marie-Tooth disease** An inherited nerve disease that slowly weakens and thins the feet, legs and hands, often with…](https://durgical.com/en/conditions/charcot-marie-tooth-disease/) - [**Crohn disease** Crohn disease is a chronic inflammatory bowel disease that can affect any part of the gut in…](https://durgical.com/en/conditions/crohn-disease/) - [**GJB2 (connexin 26) hearing loss** The most common genetic cause of deafness from birth in many populations: a recessive defect in…](https://durgical.com/en/conditions/gjb2-hearing-loss/) - [**Maturity-onset diabetes of the young (MODY)** Diabetes caused by a single dominant gene, often mistaken for type 1 or type 2; the exact gene…](https://durgical.com/en/conditions/maturity-onset-diabetes-of-the-young/) - [**Gaucher disease** In Gaucher disease macrophages fill with an undigested lipid; the spleen and liver grow…](https://durgical.com/en/conditions/gaucher-disease/) - [**Glucose-6-phosphate dehydrogenase (G6PD) deficiency** With G6PD deficiency red blood cells break down after certain drugs, fava beans or infections…](https://durgical.com/en/conditions/glucose-6-phosphate-dehydrogenase-deficiency/) - [**Hereditary hemochromatosis** An inherited disease in which the gut absorbs too much iron, which deposits in the liver…](https://durgical.com/en/conditions/hereditary-hemochromatosis/) - [**Haemophilia A and B** Haemophilia is an inherited lack of a clotting factor (VIII or IX), so bleeding lasts longer…](https://durgical.com/en/conditions/haemophilia-a-and-b/) - [**Hypertrophic cardiomyopathy** Hypertrophic cardiomyopathy is an inherited thickening of the heart muscle](https://durgical.com/en/conditions/hypertrophic-cardiomyopathy/) - [**Proteus syndrome** A very rare disorder of patchy, progressive overgrowth of bones, skin and fat, caused by a…](https://durgical.com/en/conditions/proteus-syndrome/) - [**Long QT syndrome and torsades de pointes** Long QT means the heart takes too long to recharge after each beat](https://durgical.com/en/conditions/long-qt-syndrome-and-torsades-de-pointes/) - [**Marfan syndrome** Marfan syndrome is an inherited connective tissue disorder that makes people tall and…](https://durgical.com/en/conditions/marfan-syndrome/) - [**Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency** An inherited disorder in which the body cannot use fat well for energy; fasting or an infection…](https://durgical.com/en/conditions/medium-chain-acyl-coa-dehydrogenase-deficiency/) - [**Neurofibromatosis (types 1 and 2)** Neurofibromatosis is a group of inherited conditions that cause benign tumours along nerves…](https://durgical.com/en/conditions/neurofibromatosis/) - [**Roifman syndrome** A rare recessive disorder of short stature, antibody deficiency, retinal disease and…](https://durgical.com/en/conditions/roifman-syndrome/) - [**Ornithine transcarbamylase (OTC) deficiency** The most common urea cycle disorder: the liver cannot clear ammonia well, so it builds up and…](https://durgical.com/en/conditions/ornithine-transcarbamylase-deficiency/) - [**Autosomal dominant polycystic kidney disease** Polycystic kidney disease is an inherited disorder in which many fluid-filled cysts grow in both…](https://durgical.com/en/conditions/autosomal-dominant-polycystic-kidney-disease/) - [**Noonan syndrome** A genetic disorder with short stature, a webbed neck, typical facial features and heart disease…](https://durgical.com/en/conditions/noonan-syndrome/) - [**Tay–Sachs disease** In Tay–Sachs disease a lipid called GM2 builds up in neurons; the baby stops progressing, loses…](https://durgical.com/en/conditions/tay-sachs-disease/) - [**Inherited thrombophilia** Inherited gene changes that make blood clot too easily, raising the risk of deep vein thrombosis…](https://durgical.com/en/conditions/inherited-thrombophilia/) - [**Turner syndrome** Turner syndrome is a chromosomal condition in girls with one missing or altered X chromosome](https://durgical.com/en/conditions/turner-syndrome/) - [**Dyskeratosis congenita and other telomere biology disorders** An inherited disease of very short telomeres](https://durgical.com/en/conditions/dyskeratosis-congenita-and-other-telomere-biology-disorders/) [← Medical genetics](https://durgical.com/en/genetics/) This section is an index: it gathers pages from Biochemistry, Pathology, Embryology and other sections without repeating them. Educational content; it does not replace a geneticist's assessment or genetic counselling. Representative model, for educational purposes only. --- Source: https://durgical.com/en/genetics/cases/ License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/genetics/cases/