Koolen de Vries syndrome
ORPHA: 96169
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 Koolen de Vries syndrome, sourced from HPO and Orphanet clinical annotations.
Short statureAttention deficit hyperactivity disorderIchthyosisStutteringLong fingersRecurrent otitis mediaSensorineural hearing impairmentThick nasal alaeCryptorchidismHypospadiasAbnormality of the dentitionNarrow palateStrabismusOptic atrophyMicrodontiaDelayed speech and language developmentArachnodactylySeizureJoint hypermobilityHypernasal speechAbnormal heart morphologyVentricular septal defectAtrial septal defectCardiomyopathyAbnormal cardiac septum morphologyVentriculomegalyPoor speechHigh, narrow palateHip dislocationHypopigmentation of hairChiari type I malformationAplasia/Hypoplasia of the corpus callosumHigh hypermetropiaFeeding difficulties in infancyAbnormality of hair textureIntraventricular hemorrhageOverfriendlinessUreteral duplicationRenal duplicationVesicoureteral refluxHydronephrosisCleft palateMicrocephalyConductive hearing impairmentCataractHypodontiaAbnormal dental enamel morphologyAnxietyPectus excavatumHypothyroidismCafe-au-lait spotDry skinSacral dimpleHemangiomaNumerous neviLaryngomalaciaBicuspid aortic valvePes planusPyloric stenosisSpina bifidaScoliosisKyphosisVertebral fusionVertebral segmentation defectEverted lower lip vermilionLong faceCoarse facial featuresEpicanthusBroad foreheadHigh foreheadOverfolded helixProtruding earBulbous noseProminent nasal bridgeUnderdeveloped nasal alaeWide nasal bridgePtosisBlepharophimosisUpslanted palpebral fissureIntellectual disabilityHypotoniaGlobal developmental delay
Classification & Codes
Orphanet Code
ORPHA:96169Koolen de Vries syndrome
| Orphanet | ORPHA:96169 |
| Treatments | 0 drug(s) |
| Symptoms on record | 82 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO