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Start free with EleplanSaethre-Chotzen syndrome
ORPHA:794Malformation syndrome
Also called ACS3 · Acrocephalosyndactyly type 3 · SCS
What it is
A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
7Common30–79%
22- Abnormality of the antihelix
- Abnormal pinna morphology
- Bilateral single transverse palmar creases
- Blepharospasm
- Brachycephaly
- Brachydactyly
- Convex nasal ridge
- Delayed cranial suture closure
- Depressed nasal bridge
- Hyperlordosis
- Hypertelorism
- Lacrimal duct stenosis
- Low anterior hairline
- Microtia
- Narrow internal auditory canal
- Narrow palate
- Open bite
- Plagiocephaly
- Prominent crus of helix
- Prominent nasal bridge
- Ptosis
- Strabismus
Sometimes5–29%
32- Abnormal cardiovascular system morphology
- Abnormal form of the vertebral bodies
- Abnormal hair pattern
- Abnormal heart morphology
- Amblyopia
- Bifid uvula
- Broad thumb
- Broad toe
and 24 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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