distal monosomy 9p
ORPHA: 1642
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 distal monosomy 9p, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsShort noseMicrotiaAbnormal antihelix morphologyMidface retrusionHypospadiasHypoplastic labia majoraAbnormality of the dentitionEpicanthusBrachydactylyWide intermamillary distanceAplasia/Hypoplasia of the earlobesAbnormal helix morphologyEnlarged thoraxHerniaCleft palateAbnormal cardiovascular system morphologyTrigonocephalyHypertelorismWide nasal bridgeShort neckProptosisUpslanted palpebral fissureIntellectual disabilityHypotoniaGlobal developmental delayHigh, narrow palate
Classification & Codes
Orphanet Code
ORPHA:1642distal monosomy 9p
| Orphanet | ORPHA:1642 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO