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Septopreoptic holoprosencephaly

Synonym(s) Septopreoptic HPE
Prevalence Unknown
Inheritance Multigenic/multifactorial
Age of onset Infancy
  • Q04.2
MeSH -
MedDRA -


Disease definition

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.


Prevalence of this form of HPE is not known.

Clinical description

Patients generally have mild midline craniofacial malformations: solitary median maxillary incisor (see this term) and pyriform sinus stenosis. Other reported manifestations include language delay, learning difficulties, and behavioral disorders. Imaging reveals abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery. Significant clinical variability and genetic complexity underlie HPE.

Expert reviewer(s)

  • Dr Sandra MERCIER
  • Pr Sylvie ODENT

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