Saethre-Chotzen Syndrome


Saethre-Chotzen syndrome is characterised by coronal synostosis (unilateral/bilateral), facial asymmetry particularly in patients with unicoronal synostosis, a characteristic appearance of the ear � small pinna with prominent crus and syndactyly of digits 2 and 3 of the hand. Mild to moderate developmental delay has been reported however normal intelligence is more common. Mutations of the TWIST gene can cause Saethre-Chotzen syndrome

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Additional information

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Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

1ml EDTA neonates, 5ml EDTA adults

Reference range

Not applicable

Turnaround time

20 days

Disease / group



Upon request

Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

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