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Alpha 1-antitrypsin deficiency
Autism and Aspergers Syndrome
Benign Infantile Epilepsy
Cri du chat
Duchenne Muscular Dystrophy
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Nature of the Genetic Difficulty
Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels.
Researchers are trying to determine the cause(s) of Proteus syndrome. Some research has shown the condition linked to PTEN on chromosome 10, while other research points to chromosome 16.
Postzygotic mutation has been suggested as a mechanism.
Basis Facts of Disease
First identified by Dr. Michael Cohen in 1979. There have been 200 confirmed cases.
The disorder itself does not directly cause learning impairments: the distribution of intelligence among sufferers of Proteus syndrome mirrors that of the general population. However, the growths may cause secondary damage to the nervous system leading to cognitive disability
Most notable of people affected was Joseph Merrick, the 'Elephant Man'.
Overgrowth, asymmetry, and gigantism of the limbs
Increased size of an organ, or the body, or bones (hypertrophy)
Raised rough Skin (verrucous epidermal naevi)
Deep lines and overgrowth of soft tissue on the soles of the feet (cerebriform connective tissue nevus)
Patches of overgrown blood or lymphatic vessels (vascular malformations)
Local overgrowth of fat (lipomas) or undergrowth of fat
Various tumors are more common in patients with Proteus syndrome, but most are benign
Deep venous thromboses (blood clots) and the lodging of these blood clots in the lungs (This can be life threatening)
Whilst the drug Rapamycin has been used to treat growths, it has not been found to be a cure for the condition itself.
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