6p22 microdeletion syndrome
ORPHA: 251046
Overview
6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations
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 6p22 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormality of the genital systemHydronephrosisAbnormal palate morphologyHydrocephalusEpicanthusHearing impairmentLow-set earsOverfolded helixShort neckStrabismusDeeply set eyeHypotelorismAbnormal skull morphologyHypotoniaMild intellectual disabilityRedundant skinPatent ductus arteriosusFinger syndactylyAbnormal nervous system morphologyClinodactylyHernia
Classification & Codes
Orphanet Code
ORPHA:2510466p22 microdeletion syndrome
| Orphanet | ORPHA:251046 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO