8p23.1 duplication syndrome
ORPHA: 251076
Overview
Genetic disorder
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 8p23.1 duplication syndrome, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityGlobal developmental delayLanguage impairmentHighly arched eyebrowAbnormal cardiovascular system morphologyHydronephrosisHypertelorismLong philtrumHearing impairmentWide noseDeeply set eyeAdrenal insufficiencyVentricular septal defectTetralogy of FallotPulmonic stenosisToe syndactylyThick vermilion borderExostoses
Classification & Codes
Orphanet Code
ORPHA:2510768p23.1 duplication syndrome
| Orphanet | ORPHA:251076 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO