distal trisomy 6p
ORPHA: 1745
Overview
Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay
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 trisomy 6p, sourced from HPO and Orphanet clinical annotations.
Narrow mouthThin vermilion borderPointed chinMicrognathiaProminent nasal bridgeShort neckAbnormal eyelash morphologyPtosisBlepharophimosisDry skinSacral dimpleGlobal developmental delayIntrauterine growth retardationFine hairAbnormality of chromosome segregationShort statureAbnormal hair quantityLow-set earsStrabismusNystagmusFrontal bossingAbnormal antitragus morphologyAplasia/Hypoplasia of the earlobesLong thoraxAbnormality of the urinary systemRenal hypoplasiaHydronephrosisCataractAbnormal lung lobationWide intermamillary distanceAplasia/Hypoplasia affecting the eyeAbnormal cardiovascular system morphologyHernia
Classification & Codes
Orphanet Code
ORPHA:1745distal trisomy 6p
| Orphanet | ORPHA:1745 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO