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%.;
Origin ID : 2109857109;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
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%.