Hepatic fibrosis-renal cysts-intellectual disability syndrome
Hepatic fibrosis-renal cysts-intellectual disability syndrome
Definition
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 — per MONDO