chromosome Xp21 deletion syndrome
ORPHA: 261476
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 chromosome Xp21 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
Hypogonadotropic hypogonadismEverted lower lip vermilionHypertelorismRecurrent otitis mediaStrabismusHypermetropiaEsotropiaGlobal developmental delayAdrenal insufficiencyOsteoporosisIntellectual disabilitySeizureSpasticityComaAgenesis of corpus callosumNeonatal hypotoniaConfusionGrowth delayKetoacidosisNausea and vomitingHypertriglyceridemiaMyopathyDecreased muscle massElevated circulating creatine kinase concentrationCalf muscle hypertrophyExercise-induced myalgiaIncreased muscle fatiguabilityReduced bone mineral densityApneic episodes in infancyPrimary adrenal insufficiencyFinger clinodactylyJoint hypermobility
Classification & Codes
Orphanet Code
ORPHA:261476chromosome Xp21 deletion syndrome
| Orphanet | ORPHA:261476 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO