ABCD syndrome
ABCD Syndrome
ABCD syndrome (pronounced as A-B-C-D syndrome) is a rare, genetically inherited condition characterized by Albinism, Black lock, Cell migration disorder of the neurocytes of the gut, and Deafness. It is also known as Waardenburg syndrome type IV.
Etymology
The term "ABCD syndrome" is an acronym derived from the initial letters of the main features of the disorder: Albinism, Black lock, Cell migration disorder of the neurocytes of the gut, and Deafness.
Albinism
Albinism (pronounced as al-bi-niz-uhm) is a group of inherited disorders characterized by little or no production of the pigment melanin, which is responsible for the color of the skin, hair, and eyes.
Black lock
The term "Black lock" refers to a distinctive lock of hair that grows at the temple, which is darker than the rest of the individual's hair. This is a characteristic feature of ABCD syndrome.
Cell migration disorder of the neurocytes of the gut
Cell migration disorder of the neurocytes of the gut is a condition where nerve cells (neurocytes) in the gut do not migrate properly during the early development of the fetus. This can lead to a range of digestive problems, including severe constipation and blockages in the intestines.
Deafness
Deafness (pronounced as def-ness) is the loss of the ability to hear. In ABCD syndrome, deafness is typically present from birth.
Related Terms
- Waardenburg syndrome: A group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes.
- Hirschsprung's disease: A condition that affects the large intestine (colon) and causes problems with passing stool.
External links
- Medical encyclopedia article on ABCD syndrome
- Wikipedia's article - ABCD syndrome
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