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Xeroderma Pigmentosum

Xeroderma pigmentosum (XP) is a group of rare inherited skin disorders characterized by a heightened reaction to sunlight (photosensitivity) with skin blistering occurring after exposure to the sun. In some cases, pain and blistering may occur immediately after contact with sunlight. Acute sunburn and persistent redness or inflammation of the skin (erythema) are also early symptoms of XP. In most cases, these symptoms may be apparent immediately after birth or occur within the next three years. In other cases, symptoms may not develop until later in childhood or, more rarely, may not be recognized until adulthood. Other symptoms of XP may include discolorations, weakness and fragility, and/or scarring of the skin.

XX male

X-linked juvenile retinoschisis (RS) is a genetic disorder affecting males. Major symptoms include poor eyesight and degeneration of the retina. The retina consists of membrane layers in the eye that receive visual images. It is composed of supportive and protective structures, nervous system components and layers including "rods" and "cones." RS is due to splitting of the retina, which, in turn, causes slow, progressive loss of parts of the fields of vision corresponding to the areas of the retina that have become split. Often, RS is associated with the development of cysts (sac-like blisters) in the retina.

X linked Juvenile Retinoschisis

Your baby will go through one or more of these weaning processes. All types of weaning usually work best when they are done gradually—over several weeks, months, or even longer.

X-Linked Retinoschisis

X-linked juvenile retinoschisis (RS) is a genetic disorder affecting males. Major symptoms include poor eyesight and degeneration of the retina. The retina consists of membrane layers in the eye that receive visual images. It is composed of supportive and protective structures, nervous system components and layers including "rods" and "cones." RS is due to splitting of the retina, which, in turn, causes slow, progressive loss of parts of the fields of vision corresponding to the areas of the retina that have become split. Often, RS is associated with the development of cysts (sac-like blisters) in the retina.

X-linked Myotubular Myopathy

Myotubular myopathy is a rare muscle-wasting disorder that occurs in three forms based on severity, inheritance, and symptoms. X-linked myotubular myopathy, the most severe form, is generally present at birth or occurs in infancy. Autosomal recessive myotubular myopathy is a less severe form that usually occurs during infancy or childhood. The least severe form, autosomal dominant myotubular myopathy, usually presents between the first and third decades of life and is slowly progressive.

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