Septopreoptic holoprosencephaly
ORPHA: 280195
Overview
Septopreoptic holoprosencephaly (HPE) is a very rare subtype of lobar HPE (see this term) characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion
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 Septopreoptic holoprosencephaly, sourced from HPO and Orphanet clinical annotations.
Precocious pubertyAnterior hypopituitarismCentral diabetes insipidusIntellectual disabilityAbnormal corpus callosum morphologyGeneralized hypotoniaSpecific learning disabilityAbnormal midbrain morphologyExpressive language delayAbnormal vertebral morphologyImpulsivityMicrocephalyMegalencephalyAnteriorly placed anusCoarctation of aortaDysphagiaFrontoethmoidal encephaloceleAbnormal septum pellucidum morphologyGastrostomy tube feeding in infancyHypoplasia of the ponsPerisylvian polymicrogyriaRhombencephalosynapsisShort attention spanAbnormal rib morphology
Classification & Codes
Orphanet Code
ORPHA:280195Septopreoptic holoprosencephaly
| Orphanet | ORPHA:280195 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO