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. [ Orphanet:794 ]
Synonyms: Saethre-Chotzen syndrome SCS Saethre-Chotzen syndrome with or without eyelid anomalies acrocephalosyndactyly type 3 type III Acrocephalosyndactyly ACS3
Term information
- MESH:D000168 (MONDO:directSiblingOf)
- GARD:7598 (Orphanet:794)
- UMLS:C0175699 (Orphanet:794/e)
- Orphanet:794 (OMIM:101400)
- OMIM:101400 (Orphanet:794/e)
- EFO:0007029 (MONDO:equivalentTo)
- NCIT:C75034 (MONDO:equivalentTo)
- SCTID:83015004 (MONDO:equivalentTo)
- DOID:14768 (MONDO:equivalentTo)
- NORD:1686 (MONDO:NORD)
gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen
https://github.com/monarch-initiative/mondo/issues/6744
https://github.com/monarch-initiative/mondo/issues/4521
https://github.com/monarch-initiative/mondo/issues/4948
This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
http://purl.obolibrary.org/obo/NCIT_C75034
http://www.orpha.net/ORDO/Orphanet_794
http://purl.obolibrary.org/obo/DOID_14768
http://linkedlifedata.com/resource/umls/id/C0175699
http://identifiers.org/snomedct/83015004
https://omim.org/entry/101400
acrocephalosyndactyly, type 3
Chotzen syndrome
ACS 3
acrocephaly, skull asymmetry, and mild syndactyly
blepharophimosis, epicanthus inversus, and ptosis 3
blepharophimosis,epicanthus inversus, and ptosis 3 (formerly)
acrocephalo-syndactyly, type 3
Saethre-Chotzen syndrome with eyelid anomalies
acrocephalosyndactyly type III
blepharophimosis, epicanthus inversus, and ptosis 3, formerly
https://rarediseases.info.nih.gov/diseases/7598/saethre-chotzen-syndrome
https://search.clinicalgenome.org/kb/conditions/MONDO:0007042