Home > Health > Conditions and Diseases > Genetic Disorders > Bloom Syndrome
Bloom's syndrome is inherited as an autosomal recessive disease, typically manifesting itself as: unusually small size at birth but otherwise a normal degree of maturation; shortness of stature after birth, only rarely reaching five feet; redness of the skin of the face, mainly the bridge of the nose and the adjoining upper cheek areas, the lower eyelids, and the lower lip; and increased numbers of respiratory tract and ear infections, some of which are life-threatening.
http://en.wikipedia.org/wiki/Bloom_syndrome
Summarizes features typical of patients with Bloom's syndrome.
https://sites.google.com/a/bloomsconnect.org/www/
Sheryl has this autosomal recessive genetic condition and provides information on the disorder and the practical problems facing "bloomies".
http://www.omim.org/entry/210900
Details of current research into the genetics of Bloom syndrome.
http://courses.cit.cornell.edu/psych527_nbb420-720/student2005/ljh34/bloom.htm
Cornell University summary of the current state of knowledge of BS.
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