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.

ORPHA:280200

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: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2011) Italiano (2011) Português (2011) Polski (2011, pdf)

Detailed information

Disease review articles

Genetic Testing

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

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.