Living with Microform holoprosencephaly
A milder form of a brain-formation condition that mainly affects the middle of the face, such as the nose, eyes, and front teeth.
Understanding Microform holoprosencephaly
GARD calls it a benign form of holoprosencephaly. It does not have the typical brain-splitting difference seen in holoprosencephaly. It can cause a small head, eyes that are close together, a cleft in the middle of the upper lip, a flat nose, and a single upper front tooth. Signs can be seen from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Eyes set unusually close together (hypotelorism)
- Smaller-than-average head size (microcephaly)
- Only one upper front tooth
- Blocked back of the nasal passage (choanal atresia)
- Narrow nasal bridge
- Intellectual disability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Child Neurology Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes (also called variants) cause this condition. GARD does not list the specific gene.
Also known as: holoprosencephaly minor form; holoprosencephaly-like; holoprosencephaly, minor form; holoprosencéphalie, minor form; hpe (holoprosencephaly) minor form; hpe-l
Patient organizations
- Child Neurology FoundationMicroform holoprosencephaly · United States
- Families for HoPEMicroform holoprosencephaly · United States
You are more than your diagnosis
Perspectives from people navigating life with Microform holoprosencephaly.
Explore research for Microform holoprosencephaly
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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