Saethre-Chotzen Syndrome (SCS)

Saethre-Chotzen Syndrome(来自ICD-11)

别称:

Acs3

Scs

Acrocephalosyndactyly Type 3

Acs Iii

Acrocephaly, Skull Asymmetry, and Mild Syndactyly

Acrocephalosyndactyly, Type Iii

Acrocephalosyndactyly Type Iii

Chotzen Syndrome

Saethre-Chotzen Syndrome with or Without Eyelid Anomalies

Saethre-Chotzen Syndrome, with/without Eyelid Anomalies

Dysostosis Craniofacialis with Hypertelorism

Acrocephalosyndactyly Iii

Sakati Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Saethre-Chotzen Syndrome, also known as acs3, is related to baller-gerold syndrome and robinow-sorauf syndrome. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways/superpathways are PAK Pathway and Signaling by Receptor Tyrosine Kinases. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are abnormal skull morphology and clinodactyly of the 5th finger

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