Kleefstra syndrome
ICD-10: Q93.5MeSH: C563043ORPHA: 261494
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 Kleefstra syndrome, sourced from HPO and Orphanet clinical annotations.
Everted lower lip vermilionMalar flatteningCoarse facial featuresHypertelorismAnteverted naresDelayed speech and language developmentHypotoniaGlobal developmental delayExaggerated cupid's bowShort noseTented upper lip vermilionSevere intellectual disabilityMacroglossiaBrachycephalyMicrocephalyMandibular prognathiaBroad foreheadHearing impairmentChronic otitis mediaThickened helicesUpslanted palpebral fissureSynophrysAtypical behaviorAggressive behaviorAutistic behaviorSelf-mutilationObesityVentricular septal defectBicuspid aortic valveCoarctation of aortaConstipationSleep disturbanceHighly arched eyebrowArrhythmiaCryptorchidismHypospadiasMicropenisVesicoureteral refluxRenal insufficiencyRenal cystHydronephrosisFacial asymmetryDelayed eruption of teethMotor stereotypySeizureAgenesis of corpus callosumLimitation of joint mobilityTetralogy of FallotTalipes equinovarusGastroesophageal refluxPyloric stenosisDyspneaVentriculomegalyCerebral cortical atrophyRecurrent respiratory infectionsDevelopmental regressionSupernumerary nippleBowel incontinenceScoliosisDownturned corners of mouthTracheomalaciaShort staturePulmonary artery stenosisAdvanced eruption of teethHypoplasia of penisSelf-injurious behaviorHernia
Classification & Codes
ICD-10 Code
Q93.5MeSH Code
C563043Orphanet Code
ORPHA:261494Kleefstra syndrome
| ICD-10 | Q93.5 |
| MeSH | C563043 |
| Orphanet | ORPHA:261494 |
| Treatments | 0 drug(s) |
| Symptoms on record | 67 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO