I’ve posted recently on Ashkenazi Jewish genetic diseases. Here’s one you don’t hear about that often: Bloom Syndrome. It’s is a condition that, although very rare in the general population, has much higher carrier rates among Ashkenazi Jews. What is Bloom Syndrome?
- One in 100 Ashkenazi Jews are unaffected carriers – they carry one copy of the gene change that causes Bloom Syndrome. When two carriers have a child together, there is a 1 in 4 chance the child will have Bloom Syndrome. (See autosomal recessive inheritance )
- People with Bloom Syndrome have characteristic appearances that include a long, narrow face, prominent nose and ears, and a smaller-than-average stature. The also have a tendency to develop patches of reddened skin on the face.
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I’ve posted recently on Ashkenazi Jewish genetic diseases. Here’s one you don’t hear about that often: Bloom Syndrome. It’s is a condition that, although very rare in the general population, has much higher carrier rates among Ashkenazi Jews. What is Bloom Syndrome?