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.
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Bloom Syndrome - Wikipedia
Summarizes features typical of patients with Bloom's syndrome.
Sheryl has this autosomal recessive genetic condition and provides information on the disorder and the practical problems facing "bloomies".
Online Mendelian Inheritance in Man: Bloom Syndrome
Details of current research into the genetics of Bloom syndrome.
Progeria Information Database: Bloom's Syndrome
Cornell University summary of the current state of knowledge of BS.
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Last update:October 7, 2015 at 6:35:06 UTC