chromosome 8q21.11 deletion syndrome
ORPHA: 284160
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 8q21.11 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Full cheeksRound faceShort philtrumHearing impairmentLow-set earsPtosisIntellectual disabilityHypotoniaAbnormal facial shapeExaggerated cupid's bowDownturned corners of mouthMicrognathiaHigh foreheadUnderdeveloped nasal alaeWide noseShort neckStrabismusDownslanted palpebral fissuresBlepharophimosisSclerocorneaHypernasal speechCorneal opacityAbsent palmar creaseCryptorchidismNarrow mouthAbnormality of the dentitionHigh palateEpicanthusHypertelorismCataractMicrophthalmiaEczematoid dermatitisAbnormality of the sense of smellAbnormal metacarpal morphologyFinger syndactylyAplasia/Hypoplasia of the corpus callosumIris hypopigmentationHypoplasia of penisCamptodactyly of finger
Classification & Codes
Orphanet Code
ORPHA:284160chromosome 8q21.11 deletion syndrome
| Orphanet | ORPHA:284160 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO