Xp22.13p22.2 duplication syndrome
ORPHA: 284180
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 Xp22.13p22.2 duplication syndrome, sourced from HPO and Orphanet clinical annotations.
MacroorchidismPolycystic ovariesHigh palateMicrocephalyMandibular prognathiaHypertelorismHearing impairmentFlared nostrilsBroad nasal tipShort neckStrabismusDownslanted palpebral fissuresHypermetropiaAnxietyPectus excavatumCongenital diaphragmatic herniaTapered fingerSeizureHypotoniaShort statureUmbilical herniaAbnormally high-pitched voiceTruncal obesityAbnormal facial shapeModerate intellectual disabilityScoliosisRecurrent upper respiratory tract infections2-3 toe syndactylyAttention deficit hyperactivity disorderSlowed slurred speechSparse hairHigh anterior hairlineModerate global developmental delaySmall hand
Classification & Codes
Orphanet Code
ORPHA:284180Xp22.13p22.2 duplication syndrome
| Orphanet | ORPHA:284180 |
| Treatments | 0 drug(s) |
| Symptoms on record | 34 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO