2q23.1 microdeletion syndrome
ORPHA: 228402
Overview
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.
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 2q23.1 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismOpen mouthEverted lower lip vermilionBrachycephalyMicrocephalyMalar flatteningCoarse facial featuresBroad foreheadSynophrysMotor stereotypyParoxysmal bursts of laughterDelayed speech and language developmentHyperactivitySeizureAtaxiaHypotoniaHip dysplasiaGrowth delayMacrodontiaSandal gapConstipationGeneralized hirsutismSleep disturbanceHighly arched eyebrowPolyphagiaClinodactyly of the 5th fingerShort palmShort statureHypoplasia of penisTented upper lip vermilionSevere intellectual disabilitySelf-injurious behavior
Classification & Codes
Orphanet Code
ORPHA:2284022q23.1 microdeletion syndrome
| Orphanet | ORPHA:228402 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO