Living with Holoprosencephaly sequence
A condition in which the brain does not divide properly into two halves before birth, also affecting the head and face.
Understanding Holoprosencephaly sequence
Normally the brain divides into right and left halves early in development. In holoprosencephaly it does not divide properly. There are four types, from most to least severe: alobar, semi-lobar, lobar, and middle interhemispheric variant. Severity varies widely, even within a family. Features can include a small head, cleft lip or palate, eyes close together, and one central front tooth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Brain not fully divided
- Eyes set close together (hypotelorism)
- Small head (microcephaly)
- Cleft lip or palate
- Cognitive impairment
- Diabetes mellitus
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, genetic specialists, hormone specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation, Pituitary Network Association
- 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 lists autosomal recessive and X-linked inheritance.
Also known as: familial alobar holoprosencephaly; holoprosencephaly; hpe; hpe - holoprosencephaly; single brain ventricle
Patient organizations
- Child Neurology FoundationHoloprosencephaly sequence · United States
- FACES: The National Craniofacial AssociationHoloprosencephaly sequence · United States
- Families for HoPEHoloprosencephaly sequence · United States
- myFaceHoloprosencephaly sequence · United States
- The Carter Centers for Brain Research in Holoprosencephaly and Related MalformationsHoloprosencephaly sequence · United States
- Epilepsy FoundationEpilepsy · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Holoprosencephaly sequence.
Explore research for Holoprosencephaly sequence
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