tetrasomy 21

ORPHA: 96055

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 tetrasomy 21, sourced from HPO and Orphanet clinical annotations.

BrachycephalyMicrocephalyRound faceThickened nuchal skin foldUpslanted palpebral fissureSingle transverse palmar creaseBrachydactylyIntellectual disabilityHypotoniaGlobal developmental delayProtruding tongueMacroglossiaHypertelorismComplete atrioventricular canal defectSandal gapDepressed nasal bridgeTransient myeloproliferative syndrome

Classification & Codes

Orphanet Code

ORPHA:96055
tetrasomy 21
OrphanetORPHA:96055
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO