Saethre-Chotzen syndrome
Findings
No curated finding names Saethre-Chotzen syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.
Definition from the Mondo Disease Ontology (MONDO:0007042), read 2026-09-29. CC BY 4.0.
Features
61 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal skull morphologyHPOHP:0000929
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
- Coronal craniosynostosisHPOHP:0004440
- Very frequent (80% to 99% of cases)
- CraniosynostosisHPOHP:0001363
- Very frequent (80% to 99% of cases)
- Facial asymmetryHPOHP:0000324
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- High foreheadHPOHP:0000348
- Very frequent (80% to 99% of cases)
- Abnormal antihelix morphologyHPOHP:0009738
- Frequent (30% to 79% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Frequent (30% to 79% of cases)
- BlepharospasmHPOHP:0000643
- Frequent (30% to 79% of cases)
- BrachycephalyHPOHP:0000248
- Frequent (30% to 79% of cases)
Show the remaining 49
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Convex nasal ridgeHPOHP:0000444
- Frequent (30% to 79% of cases)
- Delayed cranial suture closureHPOHP:0000270
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- HyperlordosisHPOHP:0003307
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TWIST1HGNC:12428
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- FGFR2HGNC:3689
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
6 names
Resolves to: Saethre-Chotzen syndrome
- Also called
- acrocephalosyndactyly type 3ACS3Saethre Chotzen SyndromeSaethre-Chotzen syndrome with or without eyelid anomaliesSCStype III Acrocephalosyndactyly