Living with Craniofacial dyssynostosis
A rare condition in which some skull bones close too early, changing head shape and affecting development.
Understanding Craniofacial dyssynostosis
The seams affected are both lambdoid sutures and the back of the sagittal suture. Features include a changed skull shape, a prominent forehead, low-set ears, and a flat middle face. Short stature, developmental delay, epilepsy, and trouble moving the eyes have been reported. Brain differences can include enlarged fluid spaces (hydrocephalus) and a missing corpus callosum. It starts at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closure of skull bones (craniosynostosis)
- Prominent forehead
- Larger head size (macrocephaly)
- Extra fluid in the brain (hydrocephalus)
- Severe global developmental delay
- Short stature
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 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); 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
GARD says changes in genes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. GARD doesn't name a gene.
Also known as: bilateral lambdoid and sagittal synostosis; blss; craniofacial dyssynostosis and short stature; craniofacial dyssynostosis with short stature; craniosynostosis-craniofacial dysostosis syndrome; isolated sagittal and bilambdoid craniosynostosis
Patient organizations
- FACES: The National Craniofacial AssociationCraniofacial dyssynostosis · 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 Craniofacial dyssynostosis.
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