Meckel syndrome

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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://www.orphadata.org. Data version June 2024

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Meckel syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.