Orphanet: Microform holoprosencephaly

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Microform holoprosencephaly

Disease definition

A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor.


Classification level: Disorder
  • Synonym(s):
    • HPE, minor form
    • HPE-L
    • Holoprosencephaly, minor form
    • Holoprosencephaly-like
    • Microform HPE
  • Prevalence: 1-9 / 100 000
  • Inheritance: Multigenic/multifactorial 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: Q04.2
  • OMIM: 147250  157170  609637  610829
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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