6q terminal deletion syndrome
ORPHA: 75857
Overview
6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations
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 6q terminal deletion syndrome, sourced from HPO and Orphanet clinical annotations.
HypospadiasMacrocephalyDolichocephalyBroad philtrumLow anterior hairlineHypertelorismMicrognathiaShort neckStrabismusHypermetropiaNystagmusDelayed speech and language developmentGlobal developmental delayGynecomastiaHyperkeratosisPlagiocephalySeizureMild intellectual disabilityDysmetriaCerebellar hypoplasiaFailure to thriveObesityPhimosisHallux valgusTalipes calcaneovalgusAbnormal facial shapeGait ataxiaHypoplasia of the corpus callosumPolymicrogyriaAbnormality of neuronal migrationGray matter heterotopiaAbnormal cerebral white matter morphologyHypsarrhythmiaAbnormal cerebral cortex morphologyHighly arched eyebrowScoliosisHigh, narrow palateProminent metopic ridgeWide intermamillary distanceAplasia/Hypoplasia of the ribsPeriventricular heterotopiaFloppy infantProminent foreheadThick vermilion borderClinodactylyShort palpebral fissureColpocephalyJoint hypermobilityPosteriorly rotated ears
Classification & Codes
Orphanet Code
ORPHA:758576q terminal deletion syndrome
| Orphanet | ORPHA:75857 |
| Treatments | 0 drug(s) |
| Symptoms on record | 49 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO