Living with Holoprosencephaly-craniosynostosis syndrome
A rare condition affecting the brain and skull, with a brain that did not fully divide and skull bones that close early.
Understanding Holoprosencephaly-craniosynostosis syndrome
Babies are usually born with semilobar holoprosencephaly, where the developing brain does not fully divide into two halves. They later develop craniosynostosis, when skull joints close too early. It is also linked to hand and other bone differences and distinctive facial features. It may be seen during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Holoprosencephaly
- Early skull closing (craniosynostosis)
- Small skull (microcephaly)
- Low muscle tone (hypotonia)
- Crossed eyes (strabismus)
- Short fingers or toes (brachydactyly)
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 bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 FACES: The National Craniofacial Association 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
The genetic cause is currently unknown. Some reports suggest autosomal recessive inheritance, meaning a child inherits a changed copy of the gene from each parent.
Also known as: camero lituania cohen syndrome; camero-lituania-cohen syndrome; genoa syndrome; holoprosencephaly craniosynostosis syndrome; holoprosencephaly, semilobar, with craniosynostosis
Patient organizations
- FACES: The National Craniofacial AssociationHoloprosencephaly-craniosynostosis syndrome · United States
- The Carter Centers for Brain Research in Holoprosencephaly and Related MalformationsHoloprosencephaly-craniosynostosis syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Holoprosencephaly-craniosynostosis syndrome.
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