Other Names for this Disease
- Acrocephalo-syndactyly, type 3
- Acrocephaly, skull asymmetry, and mild syndactyly
- ACS 3
- Chotzen syndrome
Your QuestionI have have two sons affected by Saethre-Chotzen syndrome. One is mildly affected while the other has severe symptoms. Is my mildly-affected son at risk to have a child with severe symptoms similar to those seen in his brother?
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Questions on this page
Mutations in the TWIST1 gene prevent one copy of the gene in each cell from making any functional protein. A shortage of the TWIST1 protein affects the development and maturation of cells in the skull, face, and limbs. These abnormalities underlie the signs and symptoms of Saethre-Chotzen syndrome, including the premature fusion of certain skull bones.
A small number of cases of Saethre-Chotzen syndrome have resulted from a structural chromosomal abnormality, such as a deletion or rearrangement of genetic material, in the region of chromosome 7 that contains the TWIST1 gene. When Saethre-Chotzen syndrome is caused by a chromosomal deletion instead of a mutation within the TWIST1 gene, affected children are much more likely to have intellectual disability, developmental delay, and learning difficulties.
Each child of an individual with Saethre-Chotzen syndrome has a 50% chance of inheriting the .
Individuals who are known to have mutations in the TWIST1 may benefit from dicussing their risks of passing on the mutation to their offspring with a genetics professional.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Saethre-Chotzen syndrome . Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=saethrechotzensyndrome. Accessed 4/21/2009.
- Ratisoontorn C, Cunningham ML. Saethre-Chotzen Syndrome. GeneReviews. 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=scs. Accessed 4/21/2009.