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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015508
obsolete hereditary parenchymatous liver disease (obsolete MONDO:0015508)
excluded_subClassOf
MONDO:0019741
familial cystic renal disease
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
Thompson Baraitser syndrome
exact
Thompson-Baraitser syndrome
exact