Saethre-Chotzen syndrome (also known as type III acrocephalosyndactyly) is characterized by limb and skull abnormalities.
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Epidemiology
It is the most common craniosynostosis syndrome and affects 1:25 - 50,000 individuals.
Males and females are equally affected.
Clinical presentation
The spectrum of observed clinical features include
- craniosynostosis: typically coronal
- syndactyly: syndactyly of digits two and three of the hand is variably present
- hypertelorism
- ptosis
- strabismus
- characteristic appearance of ears (small pinna with a prominent superior and/or inferior crus)
Pathology
Genetics
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.
Differential diagnosis
Consider other forms of acrocephalosyndactyly such as
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