Cranioectodermal dysplasia is a genetic disorder affecting different parts of body. It is a rare disease displaying abnormality of bones and ectodermal tissues such as hair, skin, nails, and teeth. Also known by other names such as Sensenbrenner syndrome and …

Alveolar rhabdomyosarcoma (ARMS) is an uncommon, rare cancerous tumor originating from the skeletal muscles of body. Sarcomas are cancerous tumor that develops from connective tissues such as muscles, fats, bones etc. There are wide varieties of sarcomas; rhabdomyosarcoma is tumor …

Hereditary elliptocytosis is a rare hereditary congenital disease in which the shape of red blood cell is abnormal. The shape is abnormally oval. It is caused by loss of gene due to mutation on chromosome 17. Family history of this …

Kabuki syndrome is a rare type of congenital disorder which was first identified and described by two Japanese scientists named Kuroki and Niikawa in the year 1981. In this disorder the child is born with distinct facial and other physical …

Mondor’s disease is a rare disorder characterized by inflammation and hardening of superficial vein under the skin of anterior chest wall and breast. The disease is named after Henry Mondor who first described the condition in detail as a separate …

Corticosterone methyl oxidase deficiency is rare genetic disease in which too much of sodium is lost through urine and excess retention of potassium. This imbalance of the vital electrolytes causes low level of sodium in blood (hyponatremia) and high rise …

Porpyria is a group of disorder in which there is accumulation of porphyrin, a type of chemical that is essential for proper functioning of hemoglobin. Too much of porphyrin can cause serious problems mainly affecting the nervous system, skin and …

What Is Progeria?

  • Progeria is a rare genetic disorder characterized by features of premature aging of the child. This disease is also known by other names such as Hutchison-Gliford progeria syndrome or premature aging syndrome.
  • The appearance of child during

Summary Of Ameloblastoma

  • Ameloblastoma is a rare benign but aggressive tumor of jaw bone and soft gingival tissue.
  • Due to its aggressive nature, it can cause destruction of the jaw bone.
  • Almost 1 to 3 percent of all jaw tumors

Kienbock’s disease is a rare disease caused due to avascular necrosis of lunate bone. Lunate bone is one of the eight carpal bones located in the wrist joint. The hand and forearm is connected with carpal bones at the wrist. …

Protein losing enteropathy is a rare condition in which there is loss of serum protein from the gut lining leading to symptoms of hypoproteinemia. It causes low protein level in blood, edema in legs, fluid accumulation in abdomen (ascites), pleural …

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare and serious disorder of blood. This acquired disease is characterized by breakdown of red blood cells, clotting of blood in the vessels and impaired functioning of the bone marrow which is responsible for …

Medullary thyroid cancer (MTC) is a rare type of thyroid tumor accounting 4 to 5 % of all thyroid malignancies. It affects people of all ages, adults as well as children. It is a neuroendocrine cancerous growth originating from parafollicular …

Pyonephrosis is a disease caused due to collection of pus in kidney parenchyma. It is also known as renal abscess. It is an uncommon disease which causes destruction of nephrons; the kidney’s important collecting system. The main etiological factors are …

Malformations of genitals are structural defect of genital tract present in boys and girls since birth. Although rare, these defects are detected soon after birth or later in life. Some of the malformations are obvious on the external surface of …

Inborn errors of amino acid metabolism are the commonest of all metabolism related disorders. Phenylketonuria (PKU) is one of them. It is a rare inherited condition which is characterized by abnormal rise of phenylalanine, a type of amino acid that …

Hypergammaglobulinemia is a rare disorder affecting the immune system of the body. It is a condition in which the immune system behaves abnormally to produce increased amount of gamma globulins, a special type of antibodies. Gamma globulins (antibodies) are type …

Sirenomelia is a rare congenital birth defect in which the legs and feet of the infant are fused together in a way so as to appear like tail of a mermaid. Therefore it is also called mermaid syndrome. It is …

Tay-sachs disease is a rare genetically transmitted disorder presenting its symptoms 3 to 4 months after the birth of the child. It is a neurological disease in which the nerve cells of brain and spinal cord gradually die. The child …

Cystic fibrosis is a genetic multi organ disorder. It mainly involves the respiratory and digestive system. Lungs, intestine, liver and pancreases are affected in this disorder. The faulty gene is located on chromosome 7. This genetic disease targets cells responsible …