distal 10q deletion syndrome
MeSH: C567182ORPHA: 96148
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 distal 10q deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Cleft palateHigh palateMicrocephalyEpicanthusSmooth philtrumFacial asymmetryMicrognathiaLow-set earsProminent nasal bridgeProminent noseAstigmatismMyopiaUpslanted palpebral fissureOculomotor apraxiaAggressive behaviorSingle transverse palmar creaseBrachydactylyTapered fingerSeizureSpasticityCerebellar hypoplasiaFacial diplegiaPremature birthAtrial septal defectPatent ductus arteriosusPes planusSandal gapClonusDelayed speech and language developmentIntellectual disabilityGlobal developmental delaySpecific learning disabilityAbnormal facial shapeThin upper lip vermilionAbnormality of the outer earWide nasal bridgeStrabismusAtypical behaviorEnuresisFailure to thriveEnlarged cisterna magnaLower limb hyperreflexiaPoor speechRecurrent infectionsPostnatal growth retardationFloppy infantClinodactylyVesicoureteral refluxHorseshoe kidneyAbnormality of the genitourinary systemUnsteady gaitSleep disturbanceCavum septum pellucidumClinodactyly of the 5th fingerShort stature2-3 toe cutaneous syndactylyLateral ventricle dilatationPoor fine motor coordinationAttention deficit hyperactivity disorderInferior cerebellar vermis hypoplasiaPes valgusCongenital sensorineural hearing impairmentShort metatarsalFeeding difficultiesFunctional abnormality of the bladderBrachycephalyTriangular faceBroad foreheadNarrow foreheadWidow's peakProtruding earDownslanted palpebral fissuresProptosisHypotelorismAnxietyPectus excavatumProminent fingertip padsAtaxiaCraniosynostosisHip dysplasiaHypoplastic toenailsAcute kidney injuryFrontal bossingAnal atresiaHip dislocationLumbar hyperlordosisShort noseSpina bifida occultaScapular wingingProminent metopic ridgeCochlear malformationAbnormal morphology of the vestibule of the inner ear
Classification & Codes
MeSH Code
C567182Orphanet Code
ORPHA:96148distal 10q deletion syndrome
| MeSH | C567182 |
| Orphanet | ORPHA:96148 |
| Treatments | 0 drug(s) |
| Symptoms on record | 92 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO