/hepatic fibrosis-renal cysts-intellectual disability syndrome

hepatic fibrosis-renal cysts-intellectual disability syndrome

Rare Disease

MONDO:0008941

Also Known As

Thompson Baraitser syndromeThompson-Baraitser syndromecerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel 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.