" /> Saethre-Chotzen syndrome - CISMeF





Preferred Label : Saethre-Chotzen syndrome;

ICD-11 definition : Saethre-Chotzen syndrome is a syndromic craniosynostosis associated with mutations in the TWIST1 gene and characterized by premature closure of coronal suture resulting in an anterior plagiocephalus or brachycephalus. An Oxycephalus may occur. Upper eyelid ptosis, small auricle, broad halluces and cutaneous webbing Digitus II/III (III/IV) are the most common clinical features. Intracranial pressure can be elevated in 30 -50%.;

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Saethre-Chotzen syndrome is a syndromic craniosynostosis associated with mutations in the TWIST1 gene and characterized by premature closure of coronal suture resulting in an anterior plagiocephalus or brachycephalus. An Oxycephalus may occur. Upper eyelid ptosis, small auricle, broad halluces and cutaneous webbing Digitus II/III (III/IV) are the most common clinical features. Intracranial pressure can be elevated in 30 -50%.

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29/05/2025


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