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hepatic fibrosis-renal cysts-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hepatic fibrosis-renal cysts-intellectual disability syndrome

MONDO:0008941

Also known as:Thompson Baraitser syndromecerebellar vermis aplasia with associated features suggesting SMITH-Lemli-Opitz syndrome and Meckel syndrome

Overview

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.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Ptosis, Intellectual disability, and Congenital hepatic fibrosis; and common findings: Multicystic kidney dysplasia, Renal cyst, Glossoptosis, and Hearing abnormality and others. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	6	Abnormality of the eye, Strabismus, Abnormality of vision

Diagnosis

Biomarker and diagnostic research for hepatic fibrosis-renal cysts-intellectual disability syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 26 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hepatic fibrosis-renal cysts-intellectual disability syndrome.

165 publications have been identified in PubMed for hepatic fibrosis-renal cysts-intellectual disability syndrome. Research spans Review / Meta-Analysis (55%), Basic Science / Preclinical (18%), and Case Report / Case Series (10%).

Research Type	Count	% of Total
Research summaries	91	55%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:213010

Orphanet

European rare disease database

Orphanet:2031

GARD

Genetic and Rare Diseases Info Center

GARD:5177

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

hepatic fibrosis-renal cysts-intellectual disability syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hepatic fibrosis-renal cysts-intellectual disability syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications