Xq27.3q28 duplication syndrome
ORPHA: 261483
Overview
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
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 Xq27.3q28 duplication syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismHypogonadismThin vermilion borderBulbous noseDeeply set eyeMild intellectual disabilityGlobal developmental delayFailure to thriveAbnormally high-pitched voiceShort footShort statureDecreased testicular sizeSmall handGynecomastiaHypotoniaIntrauterine growth retardationTruncal obesitySparse body hairDelayed skeletal maturation
Classification & Codes
Orphanet Code
ORPHA:261483Xq27.3q28 duplication syndrome
| Orphanet | ORPHA:261483 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO