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Start free with EleplanMicroform holoprosencephaly
ORPHA:280200Malformation syndrome
Also called HPE, minor form · HPE-L · Holoprosencephaly, minor form · Holoprosencephaly-like · Microform HPE
What it is
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.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Childhood, Infancy, Neonatal
- Inheritance
- Multigenic/multifactorial
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
9Sometimes5–29%
23- Abnormal cardiovascular system morphology
- Agenesis of corpus callosum
- Ambiguous genitalia
- Anteverted nares
- Asthma
- Cleft palate
- Cyclopia
- Duodenal atresia
and 15 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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