monosomy 22
ORPHA: 96123
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 monosomy 22, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsOpen mouthHigh palateThin vermilion borderProminent occiputRetrognathiaEpicanthusLong philtrumHigh foreheadWide noseShort neckAbnormality of the periorbital regionSynophrysSingle transverse palmar creaseIntellectual disabilityMeningiomaClinodactyly of the 5th fingerFlat faceNarrow palpebral fissureSchwannomaSarcomaMicropenisMicrocephalyHyperhidrosisSeborrheic dermatitisThickened skinClubbingHypertoniaJoint swellingHepatosplenomegalyHypochromic microcytic anemiaProminent nasolabial foldAplasia of the thymusContractures of the large jointsFinger syndactylyAbnormal blistering of the skinSparse hairCutis gyrata of scalpGonadal neoplasmScleroderma
Classification & Codes
Orphanet Code
ORPHA:96123monosomy 22
| Orphanet | ORPHA:96123 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO