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Saethre-Chotzen syndrome

Disease Summary
Associated Targets (3)
Tclin

2

Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.
Disease Ontology Description An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.
Mondo Term and Equivalent IDs
MONDO:0007042:  Saethre-Chotzen syndrome
EFO:0007029: 
GARD:0007598: 
NCIT:C75034: 
Orphanet:794: 
SCTID:83015004: 
UMLS:C0175699: