Hepatic fibrosis-renal cysts-intellectual disability syndrome

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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 June 2024

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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

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