Saethre-Chotzen syndrome (also known as type III acrocephalosyndactyly) is characterized by limb and skull abnormalities.
It is the most common craniosynostosis syndrome and affects 1:25 - 50,000 individuals.
Males and females are equally affected.
The spectrum of observed clinical features include
- craniosynostosis: typically coronal
- syndactyly: syndactyly of digits two and three of the hand is variably present
- characteristic appearance of ears (small pinna with a prominent superior and/or inferior crus)
It is thought to be due to mutations in the TWIST1 (twist transcription factor 1) gene located on chromosome 7p21 2. The condition is inherited in an autosomal dominant pattern.
History and etymology
It was first described by two psychiatrists, one Norwegian, Haakon Saethre and, the other German, F Chotzen, in 1931 and 1932 respectively 1.
Consider other forms of acrocephalosyndactyly such as
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- 2. Peña WA, Slavotinek A, Oberoi S. Saethre-Chotzen syndrome: a case report. (2010) The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 47 (3): 318-21. doi:10.1597/07-202.1 - Pubmed
- 3. Gallagher ER, Ratisoontorn C, Cunningham ML. Saethre-Chotzen Syndrome. 2003 May 16 [Updated 2019 Jan 24]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1189/
- 4. Friedman JM, Hanson JW, Graham CB, Smith DW. Saethre-Chotzen syndrome: a broad and variable pattern of skeletal malformations. (1977) The Journal of pediatrics. 91 (6): 929-23. Pubmed
- 5. Pelc A, Mikulewicz M. Saethre-Chotzen syndrome: Case report and literature review. (2018) Dental and medical problems. 55 (2): 217-225. doi:10.17219/dmp/91050 - Pubmed