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Saethre-Chotzen syndrome

Congenital Malformations and Chromosomal Abnormalities

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
Body System
Skeletal System 1
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2
Communicable or Non-communicable
Non-Communicable 1
Causative Agent
Causative Agent (category)
Genetic / Hereditary 3
Prevalence Band
Rare (Under 1 in 2000) 4
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
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2. Orphadata (Orphanet): Orphadata cross-references, ORPHAcode 794
Orphadata (Orphanet)Orphanet cross-reference to ICD-10, chapter derived from the code
Quote, Orphanet cross-reference to ICD-10, chapter derived from the code
"Reference": "Q87.0", "Source": "ICD-10"
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3. National Cancer Institute (NCI Thesaurus): Saethre-Chotzen syndrome - NCI Thesaurus concept C75034
National Cancer Institute (NCI Thesaurus)Definition
Quote, Definition
A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene.
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4. Orphadata (Orphanet): Orphadata epidemiology, ORPHAcode 794
Orphadata (Orphanet)Orphanet epidemiology, ORPHAcode 794
Quote, Orphanet epidemiology, ORPHAcode 794
"PrevalenceClass": "1-9 / 100 000", "PrevalenceGeographic": "Europe", "PrevalenceQualification": "Value and class", "PrevalenceType": "Prevalence at birth"
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