distal Xq28 microduplication syndrome
ORPHA: 293939
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 distal Xq28 microduplication syndrome, sourced from HPO and Orphanet clinical annotations.
Short lingual frenulumThick lower lip vermilionOpen mouthHigh palateMicrocephalyHypoplasia of the maxillaHigh foreheadEpistaxisBroad nasal tipDeeply set eyeDental crowdingDepressionAggressive behaviorAutistic behaviorAnxietyDelayed speech and language developmentGlobal developmental delayReduced eye contactHypothyroidismCafe-au-lait spotIntellectual disabilityShort staturePatent ductus arteriosusPatent foramen ovaleMetatarsus adductusAsthmaArthralgiaRecurrent upper respiratory tract infectionsNeonatal hyperbilirubinemiaGeneralized muscle weaknessPredominantly lower limb lymphedemaAttention deficit hyperactivity disorderMicrotiaDelayed fine motor developmentAbsent antihelixAbnormal central sensory functionSelf-bitingStereotypical body rockingTip-toe gaitClinodactylyUpper eyelid edemaImpulsivityAplasia/Hypoplasia of the eyebrow
Classification & Codes
Orphanet Code
ORPHA:293939distal Xq28 microduplication syndrome
| Orphanet | ORPHA:293939 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO