Neurocristopathy is a term coined by Robert P. Bolande in 1974, referring to a diverse class of pathologies that may arise from defects in the development of tissues containing cells commonly derived from the embryonic neural crest

Neural crest

Neural crest cells are a transient, multipotent, migratory cell population unique to vertebrates that gives rise to a diverse cell lineage including melanocytes, craniofacial cartilage and bone, smooth muscle, peripheral and enteric neurons and glia....

 cell lineage.

The phrase is used by both clinicians and developmental biologists interested in the embryological origins of human disease, as testify the over 200 peer-reviewed medical research articles and reviews listed in early 2011 in PubMed

PubMed

PubMed is a free database accessing primarily the MEDLINE database of references and abstracts on life sciences and biomedical topics. The United States National Library of Medicine at the National Institutes of Health maintains the database as part of the Entrez information retrieval system...

.

Accepted examples include but are not restricted to: piebaldism

Piebaldism

Piebaldism is a rare autosomal dominant disorder of melanocyte development. Common characteristics include a congenital white forelock, scattered normal pigmented and hypopigmented macules and a triangular shaped depigmented patch on the forehead....

, Waardenburg syndrome

Waardenburg syndrome

Waardenburg syndrome Waardenburg syndrome Waardenburg syndrome (also Waardenburg­ Shah Syndrome, Waardenburg-Klein syndrome, Mende's syndrome II, Van der Hoeve-Halbertsma-Waardenburg syndrome, Ptosis-Epicanthus syndrome, Van der Hoeve-Halbertsma-Gualdi syndrome, Waardenburg type Pierpont,[5] Van...

, Hirschsprung disease, Ondine's curse

Ondine's curse

Ondine's Curse, also called congenital central hypoventilation syndrome or primary alveolar hypoventilation, is a respiratory disorder that is fatal if untreated...

 (congenital central hypoventilation syndrome), pheochromocytoma

Pheochromocytoma

A pheochromocytoma or phaeochromocytoma is a neuroendocrine tumor of the medulla of the adrenal glands , or extra-adrenal chromaffin tissue that failed to involute after birth and secretes excessive amounts of catecholamines, usually noradrenaline , and adrenaline to a lesser extent...

, paraganglioma

Paraganglioma

A paraganglioma is a rare neuroendocrine neoplasm that may develop at various body sites . About 97% are benign and cured by surgical removal; the remaining 3% are malignant because they are able to produce distant metastases...

, Merkel cell carcinoma

Merkel cell carcinoma

Merkel cell carcinoma Merkel cell carcinoma Merkel cell carcinoma (also known as a "Cutaneous apudoma," "Primary neuroendocrine carcinoma of the skin," "Primary small cell carcinoma of the skin," and "Trabecular carcinoma of the skin"...

, multiple endocrine neoplasia

Multiple endocrine neoplasia

The term multiple endocrine neoplasia encompasses several distinct syndromes featuring tumors of endocrine glands, each with its own characteristic pattern. In some cases, the tumors are malignant, in others, benign...

, neurofibromatosis type I

Neurofibromatosis type I

Neurofibromatosis type I , formerly known as von Recklinghausen disease after the researcher who first documented the disorder, is a human genetic disorder. It is possibly the most common inherited disorder caused by a single gene...

, CHARGE syndrome

CHARGE syndrome

CHARGE syndrome , is a syndrome caused by a genetic disorder. It was first described in 1979.In 1981, the term "CHARGE" came into use as an acronym for the set of unusual congenital features seen in a number of newborn children...

, familial dysautonomia

Familial dysautonomia

Familial dysautonomia is a disorder of the autonomic nervous system which affects the development and survival of sensory, sympathetic and some parasympathetic neurons in the autonomic and sensory nervous system resulting in variable symptoms including: insensitivity to pain, inability to produce...

, DiGeorge syndrome

DiGeorge syndrome

22q11.2 deletion syndrome, which has several presentations including DiGeorge syndrome , DiGeorge anomaly, velo-cardio-facial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia is a syndrome caused by the deletion of a...

, Axenfeld-Rieger syndrome, Goldenhar syndrome

Goldenhar syndrome

Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch...

 (a.k.a. hemifacial microsomia

Hemifacial microsomia

Hemifacial microsomia is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It can occur on one side of the face or both. If severe it can lead to difficulties in breathing, obstructing the trachea and requiring a...

 ), craniofrontonasal syndrome

Craniofrontonasal syndrome

Craniofrontonasal syndrome is an X-linked syndrome which is more severe in females than males. Often males will have only hypertelorism , whereas females have frontonasal dysplasia, craniofacial asymmetry, bifid nasal tip, grooved nails, wiry hair and anomalies of the thoracic skeleton.Most cases...

, congenital melanocytic nevus

Congenital melanocytic nevus

The congenital melanocytic nevus is a type of melanocytic nevus found in infants at birth. This type of birthmark occurs in about 1% of infants in the United States; it is located in the area of the head and neck 15% of the time....

, melanoma

Melanoma

Melanoma is a malignant tumor of melanocytes. Melanocytes are cells that produce the dark pigment, melanin, which is responsible for the color of skin. They predominantly occur in skin, but are also found in other parts of the body, including the bowel and the eye...

, and certain congenital heart defect

Congenital heart defect

A congenital heart defect is a defect in the structure of the heart and great vessels which is present at birth. Many types of heart defects exist, most of which either obstruct blood flow in the heart or vessels near it, or cause blood to flow through the heart in an abnormal pattern. Other...

s of the outflow tract, in particular.

Multiple Sclerosis

Multiple sclerosis

Multiple sclerosis is an inflammatory disease in which the fatty myelin sheaths around the axons of the brain and spinal cord are damaged, leading to demyelination and scarring as well as a broad spectrum of signs and symptoms...

 has also been suggested as being neurocristopathic in origin .

The usefulness of the definition resides in its ability to refer to a potentially common etiological factor for certain neoplasms and/or congenital malformation associations that are otherwise difficult to group with other means of nosology.