Hepatic fibrosis-renal cysts-intellectual disability syndrome

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.

Also known as: Thompson Baraitser syndrome, Thompson-Baraitser syndrome, cerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Hepatic fibrosis-renal cysts-intellectual disability syndrome itself.