ABCD syndrome
ABCD syndrome is a rare, genetically inherited condition characterized by Albinism, Black lock, Cell migration disorder of the neurocytes of the gut, and Deafness. It was first described in 1981 and is also known as Waardenburg syndrome type IV.
Albinism[edit | edit source]
Albinism 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. In ABCD syndrome, albinism primarily affects the color of the person's skin and hair.
Black lock[edit | edit source]
The term "Black lock" refers to a lock of hair that is darker than the rest, typically located at the temporal region. This is a distinctive feature of ABCD syndrome and is often present from birth.
Cell migration disorder of the neurocytes of the gut[edit | edit source]
In ABCD syndrome, there is a cell migration disorder of the neurocytes of the gut. This results in a condition known as Hirschsprung's disease, which is characterized by the absence of nerve cells in the muscles of the colon, causing problems with passing stool.
Deafness[edit | edit source]
Deafness or hearing loss is another key feature of ABCD syndrome. This is typically sensorineural in nature, meaning it is caused by abnormalities in the inner ear or the auditory nerves.
Genetics[edit | edit source]
ABCD syndrome is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Diagnosis[edit | edit source]
Diagnosis of ABCD syndrome is based on the presence of the characteristic clinical features. Genetic testing can confirm the diagnosis.
Treatment[edit | edit source]
Treatment of ABCD syndrome is symptomatic and supportive. Management may include treatment for Hirschsprung's disease, hearing aids for deafness, and protective clothing and sunscreen for albinism.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
ABCD syndrome is a rare disease.
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