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rare but real diseases

Maleeha Fatima

April 28, 2020

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  1. Syndrome is a Greek word which means “Concurrence”. It is

    combination of medical signs & symptoms that together represent a disease process. By MaleehaFatima
  2. 1. Tree-man syndrome 2. Walking corpse syndrome 3. Vampire syndrome

    4. Werewolf syndrome 5. Stone-man syndrome 6. Alien-hand syndrome 7. Premenstrual syndrome 8. Noonan syndrome 9. Apert syndrome 10. Ehlers-Danlos syndrome list of syndromes discussed here: By MaleehaFatima
  3. TREE-MAN SYNDROME It is also called as Epidermodysplasia Verruciformis (VS).

    It is a rare autosomal recessive genetic hereditary skin disorder associated with a high risk of carcinoma of the skin. It makes a person highly susceptible to infections caused by the Human Papilloma Virus (HPV), which results in the growth of scaly muscles & papules resembling tree bark, specifically on the hands & feet. By MaleehaFatima
  4. WALKING CORPSE SYNDROME It is also called as Cotard’s delusion.

    It is a rare neuropsychiatric condition marked by false belief that the body parts are dead, dying or don’t exist & the blood or internal organs have lost. The consequences of this syndrome is self starvation because of negation of existence of self. By MaleehaFatima
  5. VAMPIRE SYNDROME It is also called as Porphyria. It is

    a group of disorders that result from a natural buildup of chemicals that produce a compound essential for the function of hemoglobin in the blood, Porphyrin. Vampire syndrome is named because many of the symptoms fit in line with the legend of the vampire such as: skin is sensitive to sunlight, reddish to purplish color urine, gums becomes shrunk, making the teeth look more prominent. By MaleehaFatima
  6. WEREWOLF SYNDROME Werewolf or Congenital Hypertrichosis is a rare genetic

    disease characterized by growth of excessive hairs on face & on the body. This syndrome is the result of dysfunction of proteins which are involved in the development of hair follicle. By MaleehaFatima
  7. STONE-MAN SYNDROME Stone-man syndrome or Fibrodysplasia Ossificans Progressiva (FOP) is

    a rare genetic disorder. It is characterised by ectopic ossification of the skeletal & connective tissues leading to progressive fusion of axial & appendicular skeleton, congenital malformation of the great toes, thumbs & vertebrae . Its occurrence is usually sporadic but may be an inherited autosomal- dominant condition. By MaleehaFatima
  8. ALIEN-HAND SYNDROME Alien-hand syndrome or Dr. Strangelove syndrome is a

    phenomenon in which a person loses control of his or her hand & the hand is not under the control of mind . It describes involuntary complex goal-directed activity of one limb. By MaleehaFatima
  9. PREMENSTRUAL SYNDROME Premenstrual syndrome (PMS) or Premenstrual tension (PMT) is

    a set of physical & psychological symptoms that starts anywhere from a few days to two weeks before a woman gets her monthly period. Many woman experience: By MaleehaFatima •Breast tenderness •Abdominal pain •Headaches •Back pain •Joint or muscle aches •Depression •Irritability •Anxiety •Water retention problem •Sleep problems •Digestion problem •Skin blemishes •Food cravings
  10. NOONAN SYNDROME It is a genetic multisystem disorder characterised by

    distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, bleeding difficulties, breast bone may be either protruding or sunken. This syndrome is caused by changes in one of several autosomal dominant genes. By MaleehaFatima
  11. APERT SYNDROME It is a distinctive human malformation comprising craniosynostosis

    (premature closure of the bones of the skull) & severe syndactyly (fusion of varied number of fingers & toes). It is caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. This gene provides the instruction to make a protein that signals bone cells to form while the baby is in the womb. This syndrome is inherited in an autosomal dominant pattern. By MaleehaFatima
  12. Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue

    disorders which results in skin hyperelasticity, hypermobility of joints, atrophic scarring & fragility of blood vessels. EDS is most often an autosomal dominant trait. By MaleehaFatima