- Acrocephalo-syndactyly, type 3
- Chotzen syndrome
- Acrocephaly, skull asymmetry, and mild syndactyly
- ACS 3
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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Mutations (variants) 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 (7p21). 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.
At least one individual with Saethre-Chotzen syndrome has been described with a mutation (variant) in the FGFR2 gene.
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 gene may benefit from discussing their risks of passing on the mutation to their offspring with a genetics professional.
- Saethre-Chotzen syndrome. Genetics Home Reference (GHR). February 2008; https://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome.
- Bayman G. Saethre Chotzen Syndrome. National Organization for Rare Disorders (NORD). 2015; http://rarediseases.org/rare-diseases/saethre-chotzen-syndrome/.
- Gallagher ER, Ratisoontorn C, Cunningham ML. Saethre-Chotzen Syndrome. GeneReviews. June 14, 2012; https://www.ncbi.nlm.nih.gov/books/NBK1189/.
- SAETHRE-CHOTZEN SYNDROME; SCS. Online Mendelian Inheritance in Man (OMIM). February 11, 2008; http://www.omim.org/entry/101400.