Living with Acrocephalosyndactyly type I
A condition, also called Apert syndrome, with early-closing skull bones and webbed fingers and toes.
Understanding Acrocephalosyndactyly type I
Distinct facial features can lead to dental and vision problems. People may also have mild to moderate intellectual disability. Many cases result from a new genetic change in a person with no family history. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early fusing of skull bones (craniosynostosis)
- Webbed or fused fingers and toes
- Bulging eyes
- Small upper jaw and bite problems
- Conductive hearing loss
- Crossed eyes (strabismus)
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, ear, nose, and throat specialists and eye disease 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
American Cleft Palate Craniofacial Association and 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); Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: American Cleft Palate Craniofacial Association, 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 American Cleft Palate 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
Changes in the FGFR2 gene cause this condition. It is autosomal dominant, but many cases result from a new genetic change with no family history.
Also known as: acrocephalo-syndactyly type 1; acrocephalosyndactyly (apert); acrocephalosyndactyly type 1; acs 1; acs1; apert syndrome
Patient organizations
- American Cleft Palate Craniofacial AssociationAcrocephalosyndactyly type I · United States
- Born A Hero Research FoundationAcrocephalosyndactyly type I · United States
- Craniosynostosis and Positional Plagiocephaly Support IncAcrocephalosyndactyly type I · United States
- FACES: The National Craniofacial AssociationAcrocephalosyndactyly type I · 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 Acrocephalosyndactyly type I.
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