" /> Saethre-chotzen syndrome - CISMeF





Preferred Label : Saethre-chotzen syndrome;

Symbol : SCS;

CISMeF acronym : ACS3; BPES3; SCS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acrocephalosyndactyly, type III; Acs III; Chotzen syndrome; Acrocephaly, skull asymmetry, and mild syndactyly; ACS3;

Included titles and symbols : Saethre-chotzen syndrome with eyelid anomalies; Blepharophimosis, epicanthus inversus, and ptosis 3; BPES3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the TWIST transcription factor gene (TWIST, 601622.0001);

Neoplasia : Increased risk of breast cancer in women;

Prefixed ID : #101400;

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27/07/2025


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