Diseases

DiGeorge syndrome

DiGeorge syndrome is caused by the deletion of a small piece of chromosome 22. As such, it is recommended that the name "22q11.2 deletion syndrome (22q11.2DS)" be used.

22q11.2DS is the most common microdeletion syndrome characterized by low copy repeats and the deletion occurs near the middle of the chromosome at a location designated 22q11.2—signifying its location on the long arm of one of the pair of chromosomes 22, on region 1, band 1, sub-band 2. The inheritance pattern is autosomal dominant and it has a prevalence estimated at 1:4000. The syndrome was described in 1968 by the pediatric endocrinologist Angelo DiGeorge. 22q11 deletion is also associated with truncus arteriosus and tetralogy of Fallot.

Digestive duplication

Digestive duplication: Duplication of a part of the digestive system. Duplication of the anal canal is the least common where as duplication of the Symptoms vary depending on what part of the digestive system is duplicated.

Digitorenocerebral syndrome

Digitorenocerebral syndrome: A very rare syndrome characterized by numerous abnormalities involving the brain, kidneys, fingers, toes, nails and face as well as mental retardation and vision impairment.

Dihydropyrimidine dehydrogenase deficiency

Dihydropyrimidine dehydrogenase deficiency: A metabolic error where a deficiency of an enzyme called dihydropyrimidine dehydrogenase prevents the normal metabolism of certain proteins. High levels of certain proteins are excreted in the urine. The enzyme is also needed the breakdown a chemotherapy drug called 5-flurouracil and its absence can result in a severe toxicity reaction.

Dilated cardiomyopathy

Dilated cardiomyopathy is a disease of the heart muscle which primarily affects the heart's main pumping chamber, the left ventricle. It is the most common type of cardiomyopathy and typically affects those aged 20 to 60. The left ventricle of affected individuals becomes enlarged (dilated) and cannot pump blood to the body with as much force as a healthy heart can. The term "cardiomyopathy" is a general term that refers to the abnormality of the heart muscle itself. Dilated cardiomyopathy might not cause symptoms, but for some people it can be life-threatening. A common cause of heart failure — the heart's inability to supply the body with enough blood — dilated cardiomyopathy can also contribute to irregular heartbeats (arrhythmias), blood clots or sudden death.

Dimauro disease

Dimauro disease (medical condition): A rare inborn error of metabolism where an enzyme deficiency (muscle phosphoglycerate mutase) affects the muscles, especially during periods of strenuous activity. Dimauro disease: Another name for Muscle phosphoglycerate mutase deficiency (or close medical condition association).

Dincsoy Salih Patel syndrome

Dincsoy-Salih-Patel syndrome: A very rare syndrome characterized mainly by a cleft lip and palate, brain abnormality, short limbs and genital abnormalities.

Dinno Shearer Weisskopf syndrome

Dinno-Shearer-Weisskopf syndrome: A very rare syndrome characterized mainly by long limbs, tall stature, large head, ataxia and facial anomalies.

Diphallia

Diphallia: An extremely rare birth malformation where males are born with two penises. The degree of duplication is variable as is the way urine is excreted. The malformation is usually associated with abnormalities such as duplication of other organs.

Diphallus rachischisis imperforate anus

Diphallus - rachischisis - imperforate anus: A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae.

Diphosphoglycerate mutase deficiency of erythrocyte

Diphosphoglycerate mutase deficiency of erythrocyte: A rare inherited condition where a deficiency of an erythrocyte enzyme diphosphoglycerate mutase in red blood cells impairs the ability of red blood cells to deliver oxygen to body tissues that need it. In response, the body produces more red blood cells to assist oxygen delivery.

Diphtheria

Diphtheria (from Greek: διφθέρα diphthera, meaning leather) is an infection caused by the bacterium Corynebacterium diphtheriae. Signs and symptoms may vary from mild to severe. They usually start two to five days after exposure. Symptoms often come on fairly gradually beginning with a sore throat and fever. In severe cases a grey or white patch develops in the throat.This can block the airway and create a barking cough as in croup. The neck may swell in part due to large lymph nodes. A form of diphtheria that involves the skin, eyes, or genitals also exists. Complications may include myocarditis, inflammation of nerves, kidney problems, and bleeding problems due to low blood platelets. Myocarditis may result in an abnormal heart rate and inflammation of the nerves may result in paralysis.

Diphtheria is usually spread between people by direct contact or through the air. It may also be spread by contaminated objects. Some people carry the bacteria without having symptoms, but can still spread the disease to others. There are three main types of C. diphtheriae causing different severities of disease. The symptoms are due to a toxin produced by the bacteria. Diagnosis can often be made based on the appearance of the throat with confirmation by culture. Previous infection may not prevent against future infection.

Diprosopia

Diprosopia: A very rare syndrome characterized by various facial anomalies, anencephaly and cleft lip and palate.

Dislocation of the hip dysmorphism

Developmental dislocation of the hip joint; Developmental hip dysplasia; DDH; Congenital dysplasia of the hip; Congenital dislocation of the hip; CDH Developmental dysplasia of the hip (DDH) is a dislocation of the hip joint that is present at birth. The condition is found in babies or young children.

Dissociative hysteria

Dissociative hysteria (medical condition): A psychiatric disorder where there are two or more distinct personalities existing within one individual. Any one of these personalities may be the dominant personality at any particular time. Dissociative hysteria: Another name for Dissociative Identity Disorder (or close medical condition association). A psychiatric disorder where there are two or more distinct personalities existing within one individual. Any one of these personalities may be the dominant personality at any particular time. The personalities may be quite different from each other and each exists with its own set of behaviours, emotions and thought processes. The condition used to be known as multiple personality disorder.

Distal arthrogryposis Moore Weaver type

Distal arthrogryposis, Moore-Weaver type: A rare disorder characterized mainly by clenched fists, permanent flexion of toes and fingers and head and facial abnormalities.

Distal myopathy Markesbery-Griggs type

Distal myopathy (or distal muscular dystrophy) is a general term for a group of rare progressive genetic disorders characterized by wasting (atrophy) and weakness of the voluntary distal muscles. The distal muscles are those farther from the center of the body and include the muscles of the lower arms and legs and the hands and feet.

Distal myopathy, Markesbery-Griggs type is subtype of distal myopathy is a very rare muscle disease which mainly affects the front of the lower leg.

Distal myopathy with vocal cord weakness

Distal myopathy with vocal cord weakness: A very rare syndrome characterized mainly by muscle weakness in the end portion of the arms and legs as well as the vocal cord and pharynx.

Distal myopathy- Nonaka type

Distal myopathy, Nonaka type (medical condition): A rare genetic condition characterized by slow-progressing muscle weakness and atrophy that starts in the calves and progresses to the rest of the legs and arms. Occasionally the hips and shoulders may be affected but the heart and facial muscles are spared. Miyoshi myopathy: A rare genetic condition characterized by slow-progressing muscle weakness and atrophy that starts in the calves and progresses to the rest of the legs and arms. Occasionally the hips and shoulders may be affected but the heart and facial muscles are spared.

Distal primary acidosis- familial

Renal tubular acidosis, distal, autosomal dominant: A rare kidney disorder characterized mainly by increased urine alkalinity and high blood acidity due to abnormal kidney functioning.

Distomatosis

Distomatosis: Infection by parasitic flat worms. Infection can involve liver, lungs or intestines. Symptoms are determined by the location of the infection. Contamination usually occurs through ingesting contaminated food or water.

Dk phocomelia syndrome

Dk--phocomelia syndrome (medical condition ): An early congenital condition that is characterised by multiple congenital anomalies. Dk--phocomelia syndrome: Another name for Von voss Cherstvoy syndrome (or close medical condition association). Von voss Cherstvoy syndrome: An early congenital condition that is characterised by multiple congenital anomalies.

Dobrow syndrome

Dobrow syndrome: A very rare syndrome characterized mainly by abnormal webbing inside the mouth, short stature, eye problems, mental retardation and small head, jaw, eyes and mouth.

Dominant cleft palate

Dominant cleft palate: An opening in the roof of the mouth that is inherited as a dominant trait (only one parent has to have the genetic defect for it to be passed on to offspring). The opening may be covered by skin or completely open. The size of the opening can affect the severity of symptoms.