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Wednesday, Dec 03, 2008 | 12:42 PM
Madisons Foundation - Moms And Dads In Search Of Needed Support
m-Power® Rare Pediatric Disease Database
Full disease list by letter:
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Achondrogenesis Type I
Type 1B, Lethal Achondrogenesis, Parenti-Fraccaro Type
Achondrogenesis Type I is a problem in the development of bone and cartilage. The result is a collection of physical symptoms related to the bone abnormalities, including abnormal short stature with short limbs, barrel chest, and a large head for the size of the body. The cause of the problem is genetic and therefore, this condition is inherited within families. At least two types of Achondrogen...
Achondroplasia
Achondroplasia is an inherited disorder of bone growth. It is one of the most common causes of growth defects characterized by abnormal body proportions (arms and legs not proportional to head and torso). Individuals with this disorder are short, have short arms and legs, a large head, and usually a normal-sized torso. Although the word achondroplasia means "without cartilage formation,&quo...
Achromatopsia
Rod monochromatism
Achromatopsia, meaning “without color,” is an inherited disorder present at birth that causes color blindness, visual problems, sensitivity to light, and nystagmus (involuntary, rapid movement of the eyes). Achromatopsia is classified into complete achromatopsia and incomplete achromatopsia. People with complete achromatopsia can only see black, white, and different shades of gray. People with...
Acoustic Neuroma
acoustic schwannomas, acoustic neurinomas,
vestibular schwannomas, vestibular neurilemmomas
An acoustic neuroma is a benign growth that originates from the nerves in the ear that carry sound to the brain. Though these growths are benign (do not spread to other parts of the body), they can affect hearing and balance.
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Acquired Cold Urticaria
Primary cold urticaria, Secondary cold urticaria
In acquired cold urticaria, affected children develop hives (urticaria) on exposure to cold temperature. Children can also get angioedema, a deeper swelling of tissues than hives, which causes puffiness and swelling of the exposed area. There is a risk of a generalized (body-wide) reaction if there is a massive exposure to cold, such as by swimming in cold water.
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