Rubinstein-Taybi syndrome
MeSH: D012415ORPHA: 783
Overview
rare 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 Rubinstein-Taybi syndrome, sourced from HPO and Orphanet clinical annotations.
High palateHypertelorismLow-set earsConvex nasal ridgeDownslanted palpebral fissuresTelecanthusDelayed speech and language developmentBrachydactylyIntellectual disabilityGlobal developmental delayJoint hypermobilityFailure to thrive in infancyShort statureFeeding difficulties in infancyBroad hallux phalanxTalon cuspBroad thumbCryptorchidismAbnormality of the genitourinary systemAbnormality of the dentitionMicrocephalyEpicanthusMicrognathiaWide nasal bridgeStrabismusGlaucomaCataractNasolacrimal duct obstructionColobomaCarious teethAtypical behaviorAutistic behaviorIrritabilityAnxietyAbnormal corpus callosum morphologyAbnormal heart morphologyConstipationRespiratory insufficiencyRespiratory distressGeneralized hirsutismHighly arched eyebrowRecurrent infectionsClinodactyly of the 5th fingerAplasia/Hypoplasia of the cerebellar vermisAttention deficit hyperactivity disorderAbnormal distal phalanx morphology of fingerSleep apneaPilomatrixomaAbnormal cardiovascular system morphologyAbsent pubertal growth spurtClubbing of toesHearing impairmentPtosisDental crowdingAtypical scarring of skinSeizureHip dysplasiaObesityPolyhydramniosAtrial septal defectChiari malformationCapillary hemangiomaAvascular necrosis of the capital femoral epiphysisFinger syndactylyAbnormal pulmonary interstitial morphologyKeloids
Classification & Codes
MeSH Code
D012415Orphanet Code
ORPHA:783Rubinstein-Taybi syndrome
| MeSH | D012415 |
| Orphanet | ORPHA:783 |
| Treatments | 0 drug(s) |
| Symptoms on record | 66 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO