Serious Symptoms Of Diamond-Blackfan Anemia

Iconic Physical Effects

Diamond-Blackfan anemia patients may be of shorter height than others of the same age. An affected individual may exhibit a cleft palate, where the roof of the mouth has an abnormal opening or gap. Diamond-Blackfan anemia can cause a patient to develop osteopenia, which is low bone density. Individuals who have Diamond-Blackfan anemia may also have abnormally formed thumbs. Other physical effects of Diamond-Blackfan anemia include a smaller than normal head, a flat nose, wide eyes, low and small ears, webbed and short neck, smaller than normal shoulder blades, and cleft lip. It is not uncommon to find defects in the heart structure or function in affected individuals. Problems with the function and structure of the kidneys may also manifest in individuals affected by Diamond-Blackfan anemia.

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Kidney Problems

The most prevalent kidney problems seen in individuals affected by Diamond-Blackfan syndrome are absent kidney, hypospadias, and horseshoe kidney. Absent kidney, solitary kidney, renal agenesis, and renal dysplasia are terms used to describe when an individual only has one kidney as a result of a birth defect or having had it removed due to an accident or disease. Certain genetic mutations that occur with the mutation that causes Diamond-Blackfan anemia can cause an individual to be born without one of their kidneys. Hypospadias is a condition of the urinary tract where a male is born with the urinary opening in the wrong location on the penis. Horseshoe kidney is a congenital abnormality where an individual is born with two kidneys that fused during fetal development and formed a single U shaped kidney, which resembles a horseshoe.

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