Friday, April 11, 2014

        ABCD syndrome or as it is defined by many other names such as, albinism, block lock, cell migration disorder of the neurocytes of the gut, or deafness. The effects of this syndrome and signs can be, "snow white hair in patches, distinct black locks of hair, skin white except brown macules, deafness, irises gray to blue, nystagmus, photophobia, poor visual activity normal melqanocytes in pigmented hair and skin, and absent melanocytes in areas of leukoderma." Eventually the individuals that inherit this disease have a blue/ gray irises and typically leads to blindness.
     Today the ABCD Syndrome is counted for a variation of Shah- Waardenburg type 4. The Waardenburg Syndrome is described as "the combination of sensorinerual hearing loss, hypopigmentation of skin and hair, and pigmentary disturbances of the irides." The hair, hearing loss and pigmentation of the irises is the only similarity that Waardenburg  Syndrome and ABCD Syndrome have in common.
      This syndrome has  no cure and no prevention of the disease. Only one in 45,000 people and children are diagnosed in Europe. The Syndrome can be discovered by ultrasounds, through phenotype displaying pigmentary disturbances, facial abnormalities, and other developmental defects. 

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