Troyer syndrome
MeSH: C536858ORPHA: 101000
Overview
gene (13q13.1), which encodes the protein spartin.
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 Troyer syndrome, sourced from HPO and Orphanet clinical annotations.
HypertelorismDelayed speech and language developmentAbnormality of the skeletal systemAbnormality of the handSpasticityDysarthriaGlobal developmental delayMotor delayGeneralized hypotoniaAbnormal cerebellum morphologySpecific learning disabilityHyperreflexiaSlurred speechJoint hypermobilityGrowth delayAbnormal foot morphologyDysphagiaConstipationSpastic paraparesisSpastic dysarthriaImpaired vibratory sensationSkeletal muscle atrophyUpper limb muscle weaknessBabinski signShort statureAbnormal hand morphologyIncreased overbiteAbnormal brain morphologyDysuriaCognitive impairmentMicrocephalyEpicanthusLow-set earsProminent noseDownslanted palpebral fissuresPsychosisEmotional labilityHallucinationsAnxietyAbnormal thumb morphologyHoarse voicePes cavusSpastic gaitSleep disturbanceGenu valgumDistal amyotrophyAbnormal nostril morphologySpeech apraxiaAnkle clonusPanic attackClinodactylyHydronephrosis
Classification & Codes
MeSH Code
C536858Orphanet Code
ORPHA:101000Troyer syndrome
| MeSH | C536858 |
| Orphanet | ORPHA:101000 |
| Treatments | 0 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO