Living with Familial scaphocephaly syndrome, McGillivray type
A rare condition in which skull bones fuse too early, giving a long, narrow head, larger head size and a set-back upper jaw.
Understanding Familial scaphocephaly syndrome, McGillivray type
It causes a long and narrow head shape, a larger-than-usual head, and an upper jaw set back from normal. It can also cause mild intellectual disability. It is seen in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Long, narrow head
- Larger head size (macrocephaly)
- High forehead
- Set-back midface and open bite
- Wide-set eyes
- Mild 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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in FGFR2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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); 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 World Craniofacial 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 the FGFR2 gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome; scaphocephaly, maxillary retrusion, and impaired intellectual development
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial scaphocephaly syndrome, McGillivray type.
Explore research for Familial scaphocephaly syndrome, McGillivray type
Explore actively recruiting Familial scaphocephaly syndrome, McGillivray type studies with HealthSpark.
Find actively recruiting studies for Familial scaphocephaly syndrome, McGillivray type with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Familial scaphocephaly syndrome, McGillivray type studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Familial scaphocephaly syndrome, McGillivray type
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Familial scaphocephaly syndrome, McGillivray type experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.