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Aarskog Syndrome
Aarskog syndrome is an inherited disorder. Its incidence is very rare, only 200 cases world wide. It is characterized by short stature, genital abnormalities and some skeletal abnormalities. It is characterize by different facial features, abnormalities in hand and feet and genito urinary abnormalities.
Aase Syndrome
It is a rare inherited disorder, which is autosomal dominant, which means that defective genes are located on the somatic chromosomes of somatic body cells. Dominant because the genes on both the alleles have some defect present, only one defective gene on one allele can not cause the disease. This syndrome is presented with the: Skeletal deformities Joint deformities Anaemia There is ...
Bassen-Kornzweig Syndrome
Beta lipoproteins are those compounds which carry cholesterol in the blood stream. It is made of proteins and large amount of cholesterol and may be fats like triglyceride. LDL (low density lipoprotein) is a beta lipoprotein. Abetalipoproteinemia means there is absence of these lipoproteins. This is a rare autosomal  recessive disease which is caused by mutation in the MTTP (microsomal triglyceride transfer ...
Agammaglobulinemia
This is an inherited disorder characterized by very low levels of protective immunoglobulins. People suffering from this condition develop repeated infections. Agammaglobulinemia is a rare disorder that mainly affects males.
Albinism
This is an inherited defect of melanin production that results in partial or full absence of pigment from the skin, hair, and eyes. Complete albinism involves a total absence of pigment from the hair, eyes, and skin, also called tyrosinase-negative oculocutaneous albinism – it is the most severe form of the condition. People suffering from this have white hair, colourless ...
Familial Combined Hyperlipidemia
A group of disorders characterized by an excess of fatty substances, such as cholesterol, triglycerides, and lipoproteins, in theblood. Forms of lipids in the blood are cholesterol, triglycerides, and lipoproteins, which are molecules of fat and cholesterol linked toprotein. Types of lipoproteins are: very low-density lipoproteins (VLDL) , low-density lipoproteins (LDL) andintermediate-density lipoproteins (IDL). Chylomicrons are also classified as lipoproteins ...
Apert Syndrome
Apert syndrome is a condition that is characterized by deformity of the various parts of the body like face, skull, feet and hands. From the condition, equal percentage of the males and females get affected. Approximately, 1 per160000 to 200000 live births get affected from the condition. It is not wrong to say that apert syndrome is a genetic defect ...
Becker'S Muscular Dystrophy
It is an inherited disorder which is due to the mutation in the dystrophin gene which codes for the protein dystrophin.Dystrophin is a rod shaped protein preset in the cytoplasm.It connects the muscle fiber to the outside environment.Its deficiency has bees identified as the root cause of the myopathies called as muscular dystrophyMuscular dystrophy refers to the group of hereditary ...
Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann syndrome is the medical name given to indicate the congenital growth defect present in the body of the infant, which may lead to large body size, large organs and other symptoms. Various types of tumors are seen in the body of the patient with this disease. The tumors such as adrenal carcinoma, Wilm’s tumor, etc are seen in the ...
Chronic Granulomatous Disease
Chronic granulomatous disease is a disease in which cells of the immune system (phagocytes) does not function properly. They are unable to form the reactive oxygen compounds that are used to kill certain fungi and bacteria. This eventually leads to chronic (long term) and recurrent infections in the various body organs. The disease is rare as 1 out of 200000 ...
Chylomicronemia Syndrome
hylomicronemia syndrome is the name representing the inherited disorder where the body fails to break down the fat (lipid) correctly. Due to this the fat particles start building up in the body of the patient and may result into several other complications. The chylomicronemia syndrome is a rare form of disease. This disease is also called familial lipoprotein lipase deficiency.
Cleidocranial Dysostosis
The cleidocranial Dysostosis (CCD) is also called Cleidocranial dysplasia and it is a hereditary condition. Under this condition the abnormal clavicles, extra teeth, short stature, delayed fusion of the skulls and other skeletal changes are observed. Sometimes the ribs, pelvis, bones of hands and feet are also affected. Though, there is no significant physical or mental disability in the patient.
Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia or CAH is the defect of the adrenal glands by birth. The kid or adult suffering from this disease fails to produce two vital hormones corticosteroids and aldosterone or both. It may also be said to encompass a group of the autosomal recessive disorders.
Congenital Afibrinogenemia
Congenital afibrinogenemia is a certain kind of rare disorder of the blood. This disease is inherited in nature. Under this disease the blood fails to clot normally. This disease is mainly seen due to defective fibrinogen, a protein necessary for blood clotting, also called coagulation factor I. The formation of the fibrinogen may either lack completely or else may lead ...
Congenital Antithrombin Iii Deficiency
Congenital antithrombin III deficiency is the condition indicating the genetically defective system of clot formation of blood due to deficiency of antithrombin III in the blood of the patient. Due to abnormal clotting of blood the organs start getting damaged, as the clots create blockage in the organs and prevent the smooth flow of blood to the organs.
Congenital Cataract
Congenital cataract is a form of the most common type of eye defect called cataract. The disease cataract represents the opacity of the lens of the eyes. Congenital cataract if left untreated can lead to permanent loss of the vision. Though, not all the cataracts may be visually significant. If the cataract is small in size and lies in the ...
Congenital Cytomegalovirus
Under the disease congenital cytomegalovirus the disease is caused due to infection with cytomegalovirus before birth.
Congenital Dislocation Of The Hip
Hip is one of the important bones of the body. The hip may also be called “ball and socket” joint, where the femur acts like a ball and the matching cup lies on the outer side of the pelvis. The congenital dislocation of the hip is seen in the birth. Various problems are responsible for this condition of the baby. ...
Congenital Nephrogenic Diabetes Insipidus
Congenital nephrogenic diabetes insipidus is a kind of disorder of kidney where the size of tubules is small. Due to this, the patient passes large amount of urine. This is a rare form of disease and is commonly found in males.
Congenital Nephrotic Syndrome
Congenital nephrotic syndrome is the medical term indicating the hereditary disease where protein can be seen in the urine of the baby. The body gets swelled up due to this disease. This disease is the rare form of this disease.

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