chromosome 4q21 deletion syndrome
ORPHA: 238750
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 4q21 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormality of the dentitionThin vermilion borderLarge fontanellesFull cheeksHypertelorismShort philtrumBroad foreheadHigh foreheadHearing impairmentLow-set earsShort neckStrabismusPtosisLong eyelashesSynophrysAutismMotor stereotypyDelayed speech and language developmentSeizureHypotoniaGlobal developmental delayAgenesis of corpus callosumCerebellar hypoplasiaTremorGrowth delayIntrauterine growth retardationToe syndactylyShort footFrontal bossingVentriculomegalyGeneralized hirsutismSleep disturbanceScoliosisDownturned corners of mouthKyphosisMicromeliaShort palmDepressed nasal bridgeSevere intellectual disabilitySevere global developmental delaySelf-injurious behaviorSmall hand
Classification & Codes
Orphanet Code
ORPHA:238750chromosome 4q21 deletion syndrome
| Orphanet | ORPHA:238750 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO