Neurocristopathy

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Neurocristopathy

Neurocristopathy (pronounced: neuro-cris-to-pathy) is a term used to describe a group of pathologies that arise from the abnormal development or differentiation of the neural crest cells.

Etymology

The term "Neurocristopathy" is derived from the words "neuro" meaning nerve, "cristo" referring to crest, and "pathy" indicating disease. It was first used in the late 20th century to describe disorders that are caused by the abnormal development of neural crest cells.

Definition

Neurocristopathies are a group of disorders that are caused by the abnormal migration, differentiation, or development of neural crest cells. These cells are a group of multipotent cells that originate from the ectoderm layer during embryogenesis and give rise to various cell types and tissues in the body, including the peripheral nervous system, melanocytes, and some facial structures.

Types of Neurocristopathies

There are several types of neurocristopathies, including:

  • Hirschsprung's disease: A condition characterized by the absence of ganglion cells in the myenteric and submucosal plexus of the colon, leading to functional obstruction.
  • Neurofibromatosis: A genetic disorder that causes tumors to form on nerve tissue.
  • Waardenburg syndrome: A group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes.
  • DiGeorge syndrome: A disorder caused by a defect in chromosome 22, resulting in poor development of several body systems.

Related Terms

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