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Septopreoptic holoprosencephaly

ORPHA280195
Synonym(s) Septopreoptic HPE
Prevalence Unknown
Inheritance Multigenic/multifactorial
Age of onset Infancy
Neonatal
ICD-10
  • Q04.2
OMIM -
UMLS -
MeSH -
MedDRA -

Summary

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.

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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