NPHP3-related Meckel-like syndrome
Synonyms: Goldston syndrome | Meckel syndrome type 7 | Meckel-like syndrome type 1 | Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome
NPHP3-related Meckel-like syndrome is a rare genetic syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios central nervous system abnormalities (commonly Dandy-Walker malformation) congenital hepatic fibrosis and absence of polydactyly.
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 April 2024
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NPHP3-related Meckel-like syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Dandy Walker Institute
research genetic testing and finding cures to improve treatment outcomes
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
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.