fanconi anemia

Three-limb Thumb Polysyndactyly Syndrome: Causes, Symptoms & Treatment

Three-limbed thumb polysyndactyly syndrome is characterized by multimemberedness of the thumb, often associated with syndactyly and multimemberedness of the toes. The malformation syndrome arises on the basis of a genetic mutation and is inherited in an autosomal dominant manner, with expressivity subject to variability. Patients are treated by surgical amputation. What is three-limb thumb polysyndactyly … Three-limb Thumb Polysyndactyly Syndrome: Causes, Symptoms & Treatment

Holt-Oram Syndrome: Causes, Symptoms & Treatment

Holt-Oram syndrome is a malformation syndrome associated primarily with heart defects and abnormalities of the thumbs that results from a mutation. In most cases, the causative mutation occurs sporadically and thus corresponds to a new mutation. Surgical correction of the cardiac defect is the focus of therapy. Holt-Oram syndrome? Congenital malformation syndromes with predominant involvement … Holt-Oram Syndrome: Causes, Symptoms & Treatment

TAR Syndrome: Causes, Symptoms & Treatment

TAR syndrome, Thrombocytopenia-Absent Radius Syndrome in English, is understood by medical science to be a malformation syndrome whose leading symptoms include nonunion of the spokes and thrombocytopenia. The cause of the syndrome is probably a hereditary gene mutation. Treatment consists primarily of platelet transfusion during the first few years of life. What is TAR syndrome? … TAR Syndrome: Causes, Symptoms & Treatment

Fanconi Anemia: Causes, Symptoms & Treatment

The hereditary disease Fanconi anemia occurs in very rare cases. Under appropriate circumstances, the disease can be cured. What is Fanconi anemia? Fanconi anemia is the medical term for an inherited form of anemia (anemia). In the context of this very rare hereditary disease, the production of red and white blood cells is impaired in … Fanconi Anemia: Causes, Symptoms & Treatment