Meckel syndrome

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Meckel syndrome

Synonyms: Dysencephalia splanchnocystica | Meckel-Gruber syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Meckel syndrome?

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