English Version
P. Krishnan, J. Smith

Saethre-Chotzen syndrome

Saethre-Chotzen syndrome

Schlüsselwörter Saethre-Chotzen syndrome; ICD 10: Q87.0; Acro-cephalo-syndactyly (ACS) syndrome, ACS III
Keywords Saethre-Chotzen syndrome; ICD 10: Q87.0; Acro-cephalo-syndactyly (ACS) syndrome, ACS III
Zusammenfassung Dieser Beitrag enthält keine Zusammenfassung

Saethre-Chotzen Syndrome (SCS) is named after Haakon Saethre, a Norwegian psychiatrist (1931) and F. Chotzen, a German psychiatrist (1932) who independently described a collection of clinical features in two different families. It is among the five most common craniosynostosis syndromes.

SCS is a subtype of craniosynostosis syndromes with variable presentation that may include craniosynostosis, brachydactyly, syndactyly (especially fingers 2 and 3), ptosis, facial asymmetry, low frontal hairline, strabismus, small ears with a prominent crus, and other limb defects.  Patients usually have normal intelligence. Although less common, patients may also have obstructive sleep apnoea (OSA), cleft palate, maxillary hypoplasia, tracheal cartilaginous sleeve (TCS), vertebral anomalies (fusion of C1 and C2) and congenital heart malformations. Raised intracranial pressure (ICP) can be significant in severe cases and may lead to seizures and death.

SCS is an autosomal dominant condition associated with a mutation in the TWIST1 gene on chromosome 7 and has a prevalence of 1:25,000 to 1:50,000 births. Patients with deletion in chromosome 7 rather than a mutation have a higher risk of learning disabilities. Diagnosis is usually clinical but can be confirmed with genetic testing. It is characterised by premature fusion of unilateral or bilateral coronal sutures.  If monitored and treated from an early age, preferably on a multidisciplinary craniofacial team, the prognosis is good.

Most patients will not have a problem with a general anaesthetic and airway management as long as the relevant co-existing conditions are managed effectively.

Patients typically come for craniofacial surgery including cranial vault expansion to prevent increase in ICP, mid facial surgery for OSA and correction of syndactyly, ptosis and strabismus. They may also present for adenotonsillectomy, grommets/ tympanostomy tubes/ ear tubes and cleft palate repair. Other procedures include microlaryngobronchoscopy (MLB) and reconstructive surgery for tracheal cartilaginous sleeves.



Supplements OrphanAnesthesia