ORPHA:794
Saethre-Chotzen syndrome
Synonyms: ACS3 · Acrocephalosyndactyly type 3 · SCS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Saethre-Chotzen syndrome | ACS3 · Acrocephalosyndactyly type 3 · SCS |
| fr | Syndrome de Saethre-Chotzen | ACS3 · Acro-céphalo-syndactylie type 3 · SCS |
| de | Saethre-Chotzen-Syndrom | ACS3 · Akrozephalosyndaktylie Typ 3 · SCS |
| es | Síndrome de Saethre-Chotzen | ACS3 · Acrocefalosindactilia tipo 3 · SCS |
| it | Sindrome di Saethre-Chotzen | ACS3 · Acrocefalosindattilia, tipo 3 · SCS |
| nl | Syndroom van Saethre-Chotzen | ACS 3 · Acrocefalosyndactylie type 3 · SCS |
| pt | Síndrome Saethre-Chotzen | ACS 3 · Acrocefalossindactilia tipo 3 |
| pl | Zespół Saethre i Chotzena | ACS 3 · Akrocefalopolisyndaktylia typ 3 |
| cs | Saethreův-Chotzenův syndrom | ACS3 · Akrocefalosyndaktylie, typ 3 · SCS · Saethre-Chotzenův syndrom |
| uk | Синдром Сетре-Хотцена | Акроцефалосиндактилія 3 типу · ACS3 · SCS |
| zh | Saethre-Chotzen综合征 | 尖头并指畸形3型 |
| tr | Saethre-Chotzen sendromu | SCS · ACS3 · Akrosefalosindaktili tip 3 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 101400 | E | validated | |
| OMIM | 180750 | BTNT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0007042 | E | validated | |
| UMLS | C0175699 | E | validated | |
| GARD | 7598 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:98684Craniostenosis with strabismus
rare genetic diseases; rare ophthalmic disorders - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1219Aurocephalosyndactyly moved to · inactive
- ORPHA:3106Robinow-Sorauf syndrome moved to · inactive
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR2 | Candidate gene tested in | Not yet assessed | HGNC:3689 | ENSG00000066468 | 176943 | 10q26.13 | fibroblast growth factor receptor 2 | 9585583[PMID]_10425034[PMID] |
| FGFR3 | Candidate gene tested in | Not yet assessed | HGNC:3690 | ENSG00000068078 | 134934 | 4p16.3 | fibroblast growth factor receptor 3 | |
| TWIST1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12428 | ENSG00000122691 | 601622 | 7p21.1 | twist family bHLH transcription factor 1 | 9585583[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | Europe | Value and class | Validated | 15923834[PMID]_8988166[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | 15923834[PMID]_[EXPERT] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Australia | Value and class | Validated | 34626670[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
61 annotations · validated 2024-04-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000929 | Abnormal skull morphology | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0004440 | Coronal craniosynostosis | |
| HP:0001363 | Craniosynostosis | |
| HP:0000324 | Facial asymmetry | |
| HP:0006101 | Finger syndactyly | |
| HP:0000348 | High forehead | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000643 | Blepharospasm | |
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0003307 | Hyperlordosis | |
| HP:0000316 | Hypertelorism | |
| HP:0007678 | Lacrimal duct stenosis | |
| HP:0000294 | Low anterior hairline | |
| HP:0008551 | Microtia | |
| HP:0011386 | Narrow internal auditory canal | |
| HP:0000189 | Narrow palate | |
| HP:0010807 | Open bite | |
| HP:0001357 | Plagiocephaly | |
| HP:0009899 | Prominent crus of helix | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000508 | Ptosis | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0010720 | Abnormal hair pattern | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0000646 | Amblyopia | |
| HP:0000193 | Bifid uvula | |
| HP:0011304 | Broad thumb | |
| HP:0001837 | Broad toe | |
| HP:0000175 | Cleft palate | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0010084 | Duplication of the distal phalanx of the hallux | |
| HP:0000286 | Epicanthus | |
| HP:0001822 | Hallux valgus | |
| HP:0002315 | Headache | |
| HP:0000365 | Hearing impairment | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000601 | Hypotelorism | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000369 | Low-set ears | |
| HP:0002076 | Migraine | |
| HP:0000648 | Optic atrophy | |
| HP:0002697 | Parietal foramina | |
| HP:0005037 | Proximal radio-ulnar synostosis | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0010535 | Sleep apnea | |
| HP:0001199 | Triphalangeal thumb | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20301368[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/794
- This record as JSON: /data/d/794.json