hepatic fibrosis-renal cysts-intellectual disability syndrome

ORPHA: 2031

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with hepatic fibrosis-renal cysts-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.

Posteriorly rotated earsUnderdeveloped nasal alaeAnteverted naresAbnormality of the eyeStrabismusAbnormality of visionVisual impairmentChorioretinal colobomaBlepharophimosisNystagmusSeizureHypertoniaRespiratory insufficiencyVentriculomegalyMeningoceleShort noseClinodactyly of the 5th fingerPtosisIntellectual disabilityCongenital hepatic fibrosisMulticystic kidney dysplasiaRenal cystGlossoptosisHearing abnormalityProtruding earShort statureBiparietal narrowingAbnormal dermatoglyphicsAbnormality of movement

Classification & Codes

Orphanet Code

ORPHA:2031

hepatic fibrosis-renal cysts-intellectual disability syndrome

Orphanet	`ORPHA:2031`
Treatments	0 drug(s)
Symptoms on record	29 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO