Saethre-Chotzen syndrome
Saethre-Chotzen syndrome (also known as type III acrocephalosyndactyly) is characterized by limb and skull abnormalities.
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 . 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 .
Differential diagnosis
Consider other forms of acrocephalosyndactyly such as
