8p11.2 deletion syndrome
ORPHA: 251066
Overview
8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.
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 8p11.2 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
AzoospermiaCryptorchidismHypogonadotropic hypogonadismHypogonadismHigh palateMicrocephalyEpicanthusHypertelorismMicrognathiaAnosmiaMicrocorneaRetinal dystrophyBlepharophimosisUpslanted palpebral fissureIris colobomaNystagmusAbnormality of the hypothalamus-pituitary axisSacral dimpleIntellectual disabilitySeizureGlobal developmental delayGrowth delayAtrial septal defectMitral valve prolapsePatent ductus arteriosusSplenomegalyTalipes equinovarusHemolytic anemiaShort statureSpherocytosisPreauricular pitDepressed nasal bridgeSupernumerary ribsHypoplasia of penisFeeding difficultiesAbnormal pinna morphology
Classification & Codes
Orphanet Code
ORPHA:2510668p11.2 deletion syndrome
| Orphanet | ORPHA:251066 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO