Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanLobar holoprosencephaly
ORPHA:93924Clinical subtype
What it is
A form of holoprosencephaly characterized by separation of the right and left cerebral hemispheres and lateral ventricules with some continuity only across the frontal neocortex, especially rostrally and ventrally. Craniofacial features are variable may include ocular hypotelorism, midline cleft lip (complete or partial) and/or flat nose amongst other features.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Multigenic/multifactorial, Not applicable
- Classified as
- Clinical subtype
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%
28- Abnormal hypothalamus physiology
- Abnormality of central motor function
- Abnormality of the autonomic nervous system
- Abnormality of the endocrine system
- Abnormality of the eye
- Anxiety
- Aspiration pneumonia
- Attention deficit hyperactivity disorder
- Atypical behavior
- Chronic lung disease
- Cleft palate
- Constipation
- Depressed nasal ridge
- Depression
- Diabetes insipidus
- Failure to thrive
- Gastroesophageal reflux
- Growth delay
- High palate
- Intellectual disability
- Irritability
- Median cleft lip
- Poor speech
- Poor suck
- Sensorineural hearing impairment
- Short stature
- Sleep-wake cycle disturbance
- Specific learning disability
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.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.