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Lobar holoprosencephaly

Orpha number ORPHA93924
Synonym(s) -
Prevalence 1-9 / 100 000
Inheritance Multigenic/multifactorial
Not applicable
Age of onset Infancy
Neonatal
ICD-10
  • Q04.2
ICD-O -
OMIM -
UMLS
  • C0431362
MeSH -
MedDRA -
SNOMED CT
  • 253136007

Summary

Lobar holoprosencephaly is the mildest classical form of holoprosencephaly (HPE; see this term) characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity across the frontal neocortex, especially rostrally and ventrally.

About 19% of HPE patients have lobar type.

Significant clinical variability and genetic complexity underlie HPE.

Expert reviewer(s)

  • Dr Sandra MERCIER
  • Pr Sylvie ODENT

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Detailed information

Summary information
Guidance for genetic testing
  • EN (2010,pdf)
Clinical genetics review
  • EN (2013)
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