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Microform holoprosencephaly

Orpha number ORPHA280200
Synonym(s) Microform HPE
Prevalence 1-9 / 100 000
Inheritance Multigenic/multifactorial
Age of onset Infancy
Neonatal
ICD-10
  • Q04.2
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage.

More than 25% of HPE patients have a microform.

Features observed in microforms consist of microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis as well as a single median maxillary incisor (see this term). Cases are usually identified in relatives of patients with clinically significant forms of HPE. 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
Clinical genetics review
  • EN (2013)
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