20q13.33 microdeletion syndrome
ORPHA: 261311
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 20q13.33 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentIntellectual disabilityHypotoniaGrowth delaySmall for gestational ageAbnormal limb bone morphologyDilation of Virchow-Robin spacesNeurodevelopmental delayPosteriorly rotated earsDownslanted palpebral fissuresUpslanted palpebral fissureSeizureFailure to thrive in infancyShort lower limbsHypospadiasThin vermilion borderEpicanthusFacial hypotoniaHypertelorismSmooth philtrumTriangular faceNarrow foreheadBulbous noseNarrow noseProptosisAutistic behaviorSacral dimpleTapered fingerOligohydramniosAtrial septal defectAbnormal cardiac ventricle morphologyTalipes equinovarusPes planusHallux valgusHypoplasia of the corpus callosumDelayed CNS myelinationHighly arched eyebrowHematocheziaHip dislocationAplasia/Hypoplasia of the nipplesProminent crus of helixHypoplastic aortic archDecreased scrotal rugation
Classification & Codes
Orphanet Code
ORPHA:26131120q13.33 microdeletion syndrome
| Orphanet | ORPHA:261311 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO