20p13 microdeletion syndrome
ORPHA: 313781
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 20p13 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Motor delayThin upper lip vermilionWide anterior fontanelSmooth philtrumLow-set earsAbnormal pinna morphologyProminent nasal bridgeDelayed speech and language developmentIntellectual disabilitySeizureFailure to thrive in infancySmall nailEEG abnormalityPoor head controlHighly arched eyebrowDecreased body weightProminent foreheadMicrocephalyMacrocephalyHypertelorismPosteriorly rotated earsMicrocorneaRetinopathyDeeply set eyeDownslanted palpebral fissuresTelecanthusSynophrysBrachydactylyFinger syndactylyReduced visual acuityHypoplastic helicesPolydactylyTented upper lip vermilionClinodactylyNarrow palpebral fissure
Classification & Codes
Orphanet Code
ORPHA:31378120p13 microdeletion syndrome
| Orphanet | ORPHA:313781 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO