Living with Hunter-McAlpine craniosynostosis
A very rare genetic condition with developmental delay, intellectual disability, and a small head, sometimes from early skull closure.
Understanding Hunter-McAlpine craniosynostosis
The small head size (microcephaly) is sometimes from early closure of skull bones, called craniosynostosis. This can cause a misshapen skull and is common in this condition. It may be noticed during pregnancy, at birth, or in infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. Its summary describes:
- Developmental delay
- Intellectual disability
- Small head (microcephaly)
- Early skull closure (craniosynostosis)
- Misshapen skull
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons)
- 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 rare disease patient organizations for support
- 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
It is caused by changes in genes. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: hunter mcalpine craniosynostosis syndrome; hunter-mcalpine craniosynostosis syndrome; hunter-mcalpine syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hunter-McAlpine craniosynostosis.
Explore research for Hunter-McAlpine craniosynostosis
Explore actively recruiting Hunter-McAlpine craniosynostosis studies with HealthSpark.
Find actively recruiting studies for Hunter-McAlpine craniosynostosis 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
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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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