hepatic fibrosis-renal cysts-intellectual disability syndrome
Findings
No curated finding names hepatic fibrosis-renal cysts-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008941), read 2026-09-29. CC BY 4.0.
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Congenital hepatic fibrosisHPOHP:0002612
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Abnormal dermatoglyphicsHPOHP:0007477
- Frequent (30% to 79% of cases)
- Abnormality of movementHPOHP:0100022
- Frequent (30% to 79% of cases)
- Abnormality of the eyeHPOHP:0000478
- Frequent (30% to 79% of cases)
- Abnormality of vision
Show the remaining 17
- GlossoptosisHPOHP:0000162
- Frequent (30% to 79% of cases)
- Hearing abnormalityHPOHP:0000364
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- MeningoceleHPOHP:0002435
- Frequent (30% to 79% of cases)
- Multicystic kidney dysplasiaHPOHP:0000003
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: hepatic fibrosis-renal cysts-intellectual disability syndrome
- Also called
- Thompson Baraitser syndromeThompson-Baraitser syndrome