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Midline interhemispheric variant of holoprosencephaly

Orpha number ORPHA93926
Synonym(s) MIH
MIH type HPE
MIHF
MIHV
Middle interhemispheric fusion variant
Middle interhemispheric variant of holoprosencephaly
Syntelencephaly
Prevalence 1-9 / 100 000
Inheritance Multigenic/multifactorial
Not applicable
Age of onset Infancy
Neonatal
ICD-10
  • Q04.2
ICD-O -
OMIM -
UMLS -
MeSH -
MedDRA -

Summary

Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.

About 2% to 15% of HPE patients have MIH type.

Patients have rather mild dysmorphic facial features such as ocular hypotelorism, flat or narrow nasal bridge or a relatively normal facial appearance.

MIH has mainly been reported in patients with ZIC2 (13q32) mutations.

Prognosis is better than in classical forms of HPE.

Expert reviewer(s)

  • Dr Sandra MERCIER
  • Pr Sylvie ODENT

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Detailed information

Summary information
Clinical genetics review
  • EN (2013)
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