Saethre-Chotzen Syndrome


Description

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

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

1ml EDTA neonates, 5ml EDTA adults


Reference range

Not applicable


Turnaround time

20 days


Disease / group

TWIST


Cost

Upon request


Call in advance?

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


Genetics

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

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