Meckel-Gruber syndrome

Synonyms: DYSENCEPHALIA SPLANCHNOCYSTICA; Dysencephalia splachnocystica; Gruber syndrome; Meckel Syndrome

Summary

A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. [from ORDO]

Available tests

28 tests are in the database for this condition.

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Clinical tests (27 available)

Molecular Genetics Tests

Research tests

See all research tests for this condition (1)

Genes See tests for all associated and related genes

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