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: //www.orphadata.org. Data version October 2023.
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Meckel syndrome?
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Advocacy Organizations
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.