Bardet-Biedl syndrome

MeSH: D020788ORPHA: 110

Contents

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

Overview

ciliopathic human genetic disorder that produces many effects and affects many body systems

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 Bardet-Biedl syndrome, sourced from HPO and Orphanet clinical annotations.

Retinal dystrophyCone/cone-rod dystrophyObesityChildhood-onset truncal obesityNeurodevelopmental delayAbnormality of the genitourinary systemHypogonadismAbnormal oral cavity morphologyHigh palateAbnormal electroretinogramColor vision defectPhotophobiaBlindnessNystagmusNyctalopiaHypodontiaDental crowdingAtypical behaviorDepressionAutismShort attention spanHypertensionBrachydactylySpecific learning disabilityHypertriglyceridemiaElevated circulating hepatic transaminase concentrationDecreased HDL cholesterol concentrationShort statureAbnormality of the sense of smellReduced visual acuityHypoplasia of the ovaryHypoplasia of penisChronic kidney diseaseImpaired fasting glucosePostaxial polydactylyCognitive impairmentNeurogenic bladderCryptorchidismVesicoureteral refluxHorseshoe kidneyNephrotic syndromeHydronephrosisPolycystic ovariesRetrognathiaHypertelorismLong philtrumHearing impairmentOtitis mediaMacrotiaProminent nasal bridgeShort neckAstigmatismStrabismusDownslanted palpebral fissuresCataractMicrodontiaEmotional labilityAnxietyDelayed speech and language developmentInfertilityAbnormality of the endocrine systemHypothyroidismInsulin resistanceIrregular menstruationSyndactylyIntellectual disabilitySeizureAtaxiaSpasticityHepatic fibrosisHepatic steatosisAbnormal heart morphologyTalipes equinovarusAsthmaAbnormal speech patternGeneralized hirsutismSkeletal muscle atrophyDepressed nasal bridgeMultiple renal cystsType II diabetes mellitusFinger syndactylyNasal dysarthriaDecreased testicular sizeMedial flaring of the eyebrowAbnormality of the gastrointestinal tractAplasia/Hypoplasia of the vaginaRhinitisHydrometrocolposCardiomyopathyInflammation of the large intestineAganglionic megacolonCeliac diseaseFifth finger distal phalanx clinodactylyPosteriorly rotated earsJoint hypermobility

Classification & Codes

MeSH Code

D020788

Orphanet Code

ORPHA:110

Bardet-Biedl syndrome

MeSH	`D020788`
Orphanet	`ORPHA:110`
Treatments	0 drug(s)
Symptoms on record	95 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO