Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
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.
A rare syndromic intellectual disability characterised 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, tachypnoea. There have been no further descriptions in the literature since 1987.
Term info
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder)
- Hepatic fibrosis, renal cyst, intellectual disability syndrome
- Thompson Baraitser syndrome
Term relations
- Congenital anomaly of the kidney (disorder)
- Multiple malformation syndrome with facial defects as major feature (disorder)
- Congenital cystic kidney disease (disorder)
- Intellectual disability (disorder)
- Congenital hepatic fibrosis (disorder)
- Multiple malformation syndrome with facial defects as major feature (disorder) and Intellectual disability (disorder) and Role group (attribute) some (
Associated morphology (attribute) some Fibrosis (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Liver structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Associated morphology (attribute) some Polycystic change (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Kidney structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value)) and Role group (attribute) some (
Associated morphology (attribute) some Morphologically abnormal structure (morphologic abnormality) and
Occurrence (attribute) some Congenital (qualifier value) and
Finding site (attribute) some Face structure (body structure) and
Pathological process (attribute) some Pathological developmental process (qualifier value))