DiGeorge syndrome
MeSH: D004062ORPHA: 567
Overview
T cell deficiency disease that is the result of a large deletion of chromosome 22, which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production
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 DiGeorge syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityAbnormal T cell physiologyCleft palateEpicanthusLow-set earsConductive hearing impairmentBulbous noseProminent nasal bridgeWide nasal bridgeTelecanthusUpslanted palpebral fissureAbnormality of the pharynxHypoplasia of the thymusHypotoniaHypernasal speechVentricular septal defectAtrial septal defectTetralogy of FallotAbnormal pulmonary valve morphologyTruncus arteriosusAbnormal facial shapeAphasiaPlatybasiaImmunodeficiencyAbnormal aortic arch morphologyAbnormal cardiovascular system morphologyRenal hypoplasiaAbnormality of the dentitionMalar flatteningLong faceLong philtrumHearing impairmentSmall earlobeChronic otitis mediaOverfolded helixShort neckAbnormal eyelid morphologyPtosisPosterior embryotoxonCarious teethAnxietyHypoparathyroidismAbnormal skull morphologySeborrheic dermatitisAcneArachnodactylyMild intellectual disabilityGlobal developmental delayTetanySpecific learning disabilityConstipationMeningoceleScoliosisHypocalcemiaMyalgiaShort statureAttention deficit hyperactivity disorderCorneal neovascularizationAnorectal anomalyAbnormality of the tonsilsInguinal herniaCryptorchidismHypospadiasVesicoureteral refluxPolycystic kidney dysplasiaAbnormality of the uterusNarrow mouthHydrocephalusMicrocephalyTurricephalyHypertelorismShort philtrumMicrognathiaChoanal atresiaStrabismusDownslanted palpebral fissuresGlaucomaCataractMicrophthalmiaOptic atrophyAbnormal dental enamel morphologyAtypical behaviorDepressionAutismAbnormal thorax morphologyHypothyroidismHyperthyroidismPurpuraHypopigmented skin patchesCholelithiasisRetinal arteriolar tortuosityHand polydactylyIntellectual disabilitySeizureParkinsonismArthritisFailure to thriveIntrauterine growth retardationObesityUmbilical herniaPolyhydramniosLaryngomalaciaPatent ductus arteriosusAbnormal aortic valve morphologySplenomegalyTalipes equinovarusFoot polydactylyAbnormality of thrombocytesThrombocytopeniaGastroesophageal refluxAnal atresiaAsthmaAbnormal lung lobationArrhinencephalyGastrointestinal hemorrhageAganglionic megacolonSpina bifidaIntestinal malrotationBowel incontinenceVaricose veinsAutoimmunityPatellar dislocationMultiple renal cystsChronic pulmonary obstructionBipolar affective disorderFeeding difficulties in infancyMultiple suture craniosynostosisTricuspid atresiaHypertensive crisisAtelectasisSchizophrenia
Classification & Codes
MeSH Code
D004062Orphanet Code
ORPHA:567DiGeorge syndrome
| MeSH | D004062 |
| Orphanet | ORPHA:567 |
| Treatments | 0 drug(s) |
| Symptoms on record | 131 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO