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ABCD Syndrome

ABCD syndrome can be caused by homozygous mutation in the endothelin B receptor gene.It is also a recessive gene so both parents must have the gene.this disorder is also known as Waardenburg syndrome.

Presented by Noah Crawford for 8th period PAP Biology

Albinism

Inherited,little or no melanin production,No cure

Albinism

With this the person has pale skin,eye conditions,white patches of hair,is sensitive to the sun,and is more likely to acquire skin cancer.

Black Lock

Can appear differently but are usually thick black locks of hair,first seen in picture of infants one with thick patches of black hair above the ear forming a half circle reaching to the other ear creating a crest.

Black Lock

CMDNG

Nerve cells that do not function properly in the gut,causing aganglionosis,which makes intestines fail to move along the gut.

Cell migration disorder of the neurocytes of the gut

Sensorineural Deafness

Hearing loss caused by damage to the inner ear or damage to the nerve from the ear to the brain.

In this type of hearing loss, higher pitched tones may sound muffled. It may become difficult to pick out words against background noise.

Can't be cured.

Sensorineural deafness

Medical Research

Medical

While the disease itself is unpreventable and incurable there are treatments for most of the symptoms exist.Such as hearing aids and sun screen,

Sources

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