Hepatic fibrosis-renal cysts-intellectual disability syndrome
Synonyms: Thompson-Baraitser syndrome
Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare syndromic intellectual disability characterized by early developmental delay with failure to thrive intellectual disability congenital hepatic fibrosis renal cystic dysplasia and dysmorphic facial features (bilateral ptosis anteverted nostrils high arched palate and micrognathia). Variable additional features have been reported including cerebellar anomalies postaxial polydactyly syndactyly genital anomalies tachypnea. There have been no further descriptions in the literature since 1987.
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 September 2023.
Newly diagnosed with
Hepatic fibrosis-renal cysts-intellectual disability syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
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.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
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
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.