Blooms Syndrome

Blooms syndrome is an inherited birth disorder. People diagnosed with Blooms syndrome are very short and weigh very little when they are born. On average, they only reach about 5 ft at the tallest when they are adults. Blooms syndrome causes the affected to have a very different and uncommon face. They typically have a long narrow face, a larger nose, and a high pitched voice. Men that have Blooms syndrome are unable to produce sperm. The disorder is most common in central and eastern Europe. One third of the affected are Ashkenazi Jews.

The condition is inherited by the auotosomal recessive pattern. The parents that produce a baby with this disorder are typically both carriers of the recessive/mutated gene. But, this does not mean that the parents have the disorder, they are carriers, not the affected.

Many with this syndrome are more prone to being diagnosed with cancer and diabetes. Many have severe troubles with learning. They also have many infections to the ears, respiratory tract, and lungs during their infancy.

Sister chromatid exchange: left is normal and right is Blooms syndrome.