Down syndrome
MeSH: D004314ORPHA: 870
Overview
chromosomal condition
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 Down syndrome, sourced from HPO and Orphanet clinical annotations.
BrachycephalyEpicanthusShort neckThickened nuchal skin foldUpslanted palpebral fissureBrachydactylyIntellectual disabilityHypotoniaSpecific learning disabilityJoint hypermobilityDepressed nasal bridgeIncreased total neutrophil countFlat faceRound earDecreased fertilityMacroglossiaNarrow mouthAbnormality of the dentitionThick lower lip vermilionNarrow palateOpen mouthAbnormal cranial suture/fontanelle morphologyDepressed nasal ridgeBroad neckMicrodontiaObesityUmbilical herniaVentricular septal defectSandal gapAbnormality of blood and blood-forming tissuesThrombocytopeniaPolycythemiaDuodenal atresiaDevelopmental regressionAlzheimer diseaseDownturned corners of mouthShort noseClinodactyly of the 5th fingerShort statureAtrioventricular canal defectPrematurely aged appearanceBilateral single transverse palmar creasesProtruding tongueAbnormality of immune system physiologyAbnormal cardiovascular system morphologyAbnormality of the lymphatic systemConductive hearing impairmentStrabismusBlepharitisCataractMyopiaKeratoconusAmblyopiaDelayed pubertySeizureGait disturbanceTetralogy of FallotSecundum atrial septal defectLeukemiaGastroesophageal refluxAnal atresiaAganglionic megacolonCeliac diseaseDelayed skeletal maturationAtlantoaxial dislocationType II diabetes mellitusAcute megakaryocytic leukemiaImpaired pain sensationSparse hairRenal hypoplasia/aplasiaChronic constipationHyperthyroidism
Classification & Codes
MeSH Code
D004314Orphanet Code
ORPHA:870Down syndrome
| MeSH | D004314 |
| Orphanet | ORPHA:870 |
| Treatments | 0 drug(s) |
| Symptoms on record | 72 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO