Alagille syndrome. This is a genetic disorder affecting kidney, liver, heart and other systems. Usually seen in infancy and very early childhood. Face is very similar - deep set eyes, prominent broad forehead, pointed chin. Seeing that it is autosomal dominant there is no cure. Treatment is aimed at dealing with the abnormalities in the various systems affected.
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Genetic disease. Alagille syndrome is a genetic disease which most importantly affects the liver. Significant congenital heart disease also is common. Over 90% of affected patients have a mutation or deletion in the jag1 gene. The liver disease is characterized by abnormal bile ducts. Each individual is affected differently, from mild effects to severe liver failure requiring transplantation.
Genetic abnormality. Genetic abnormality, autosomal dominant, has multi-organ problems; affects liver/bile ducts, pulmonic heart valve, kidney, eye, bone, neurologic/mental problems, characteristic facial features. Variable intensity of findings; can be dx'd infancy, milder cases as adult. May need meds, vits, heart, liver surgery, even transplant. Variety of nutritional issues, vits a, d, e, k, zinc, fats, cholesterol.
A genetic disorder. Alagille syndrome is a genetic disorder that can mostly affect the liver, heart, kidney, and some other body systems. Symptoms can be very mild (unnoticeable) to severe (causing organ failure or needing transplantation surgery). A specific gene error (deletion) causes the condition which can be an autosomal dominant trait or sporadic. Treatments aim to lessen symptoms or treat affected organs.
Liver biopsy. Liver biopsy is probably the most effective means of diagnosis. Many people with alagille syndrome do have characteristic facial features and some unusual x-ray findings but not in all cases.
Genetic test, like. Cgh for an autisomal dominant mutation in the jagged-1 gene on the short arm of chromosome 20, 20p12. Because of "variable penetrance" some parents don't have noticeable symptoms, especially if they have mosaicism, i.e., some, but not all, of their cells carry the mutation. Therefore, although 15% of cases are "sporadic, " i.e., from new mutations, it is recommended that parents be tested.
Alagille syndrome. Alagille syndrome is a genetic disorder with abnormalities of the liver, heart, skeleton, eye, and kidneys and a characteristic facial appearance. In 1975, alagille et al described several patients with hypoplasia of the hepatic ducts. Typical facial features of alagille syndrome include broad forehead, deep-set eyes and pointed chin. More at: http://emedicine. Medscape. Com/article/926678-overview.
Jaundice. Alagille syndrome is an autosomal dominant inherited rare condition that primarily affects the liver. Symptoms can be mild or so severe as to require liver transplantation. Jaundice and skin itching are the primary symptoms.
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Liver and more. Alagille syndrome is a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine. In Alagille syndrome, the bile ducts may be narrow, malformed, and reduced in number.
Questran (cholestyramine) Questran (cholestyramine) is a medication that is used to reduce serum cholesterol. Alagille syndrome is often marked by high serum cholesterol..
Supportive care. There is no known cure for this disease. Treatment is directed toward improving heart effects and diminishing the effects of a failing liver.