Saethre-Chotzen syndrome, abbreviated SCS and also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis, the premature closure of one or more of the sutures between the bones of the skull. This changes the shape of the head and face, producing a cone-shaped head and an asymmetrical face. People with the syndrome also commonly have drooping eyelids, called ptosis, widely spaced eyes, called hypertelorism, and minor abnormalities of the hands and feet such as syndactyly, the joining of digits. Those with more severe cases may have mild to moderate intellectual or learning disabilities. How much medical or surgical intervention is needed depends on severity, and most people with the syndrome live fairly normal lives whether or not treatment is needed.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Causative Agent
Causative Agent (category) Prevalence Band Sources
1. Saethre-Chotzen syndrome (Wikipedia)
Lead section
is a rare congenital disorder associated with craniosynostosis
Lead section [body-system]
premature closure of one or more of the sutures between the bones of the skull
View the Source2. Orphadata (Orphanet): Orphadata cross-references, ORPHAcode 794
Orphadata (Orphanet)Orphanet cross-reference to ICD-10, chapter derived from the codeQuote, Orphanet cross-reference to ICD-10, chapter derived from the code
"Reference": "Q87.0", "Source": "ICD-10"
View the Source 3. National Cancer Institute (NCI Thesaurus): Saethre-Chotzen syndrome - NCI Thesaurus concept C75034
National Cancer Institute (NCI Thesaurus)DefinitionQuote, Definition
A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene.
View the Source 4. Orphadata (Orphanet): Orphadata epidemiology, ORPHAcode 794
Orphadata (Orphanet)Orphanet epidemiology, ORPHAcode 794Quote, Orphanet epidemiology, ORPHAcode 794
"PrevalenceClass": "1-9 / 100 000", "PrevalenceGeographic": "Europe", "PrevalenceQualification": "Value and class", "PrevalenceType": "Prevalence at birth"
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