chromosome 1q21.1 deletion syndrome
ORPHA: 250989
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 chromosome 1q21.1 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Inguinal herniaCryptorchidismVesicoureteral refluxHydronephrosisHigh palateHydrocephalusMicrocephalyEpicanthusLong philtrumSensorineural hearing impairmentBulbous noseWide nasal bridgeStrabismusDeeply set eyeCataractMicrophthalmiaIris colobomaDepressionAutismAnxietyHand polydactylyIntellectual disabilitySeizureHypotoniaGlobal developmental delayAgenesis of corpus callosumFailure to thriveIntrauterine growth retardationPatent ductus arteriosusAbnormal cardiac septum morphologyTalipes equinovarusToe syndactylyShort footFoot polydactylyFrontal bossingSleep disturbanceScoliosisClinodactyly of the 5th fingerShort statureAttention deficit hyperactivity disorderHigh hypermetropiaBroad hallux phalanxAnkyloglossiaBroad thumbInterrupted aortic archSchizophreniaJoint hypermobility
Classification & Codes
Orphanet Code
ORPHA:250989chromosome 1q21.1 deletion syndrome
| Orphanet | ORPHA:250989 |
| Treatments | 0 drug(s) |
| Symptoms on record | 47 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO