Living with Saethre-Chotzen syndrome
A genetic condition in which skull bones join too early, changing the shape of the head and face.
Understanding Saethre-Chotzen syndrome
This early fusion keeps the skull from growing normally and changes head and face shape. Most people have fusion along the coronal suture (the growth line from ear to ear). Features can include a high forehead, droopy eyelids, wide-set eyes, and small rounded ears. Hand and foot changes are mild. Most people have normal intelligence, though delays and learning difficulties have been reported.
Signs & symptoms
Symptoms vary a lot, even in one family. GARD lists these among the most common:
- Early fusion of skull bones (craniosynostosis)
- Uneven face (facial asymmetry)
- Droopy eyelids (ptosis)
- High forehead and low hairline
- Partly joined fingers (syndactyly)
- Small, oddly shaped ears
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, cancer specialists and eye disease 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); Cancer specialists (oncologists); Eye disease specialists (ophthalmologists)
- 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 Born A Hero Research 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
GARD lists autosomal dominant inheritance, so one changed copy of a gene can be enough. It says Robinow-Sorauf syndrome results from changes in the same gene but does not name it here.
Also known as: acrocephalosyndactyly type 3; acrocephalosyndactyly, type iii; acrocephaly, skull asymmetry, and mild syndactyly; acs iii; acs3; chotzen syndrome
Patient organizations
- Born A Hero Research FoundationSaethre-Chotzen syndrome · United States
- Craniosynostosis and Positional Plagiocephaly Support IncSaethre-Chotzen syndrome · United States
- FACES: The National Craniofacial AssociationSaethre-Chotzen 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 Saethre-Chotzen syndrome.
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