[MIM 101400]

(Chotzen syndrome, acrocephalosyndactyly type III)

Rare: 1/25-50,000 births. Autosomal dominant transmission of a mutation of the TWIST1 gene (7p21.1) coding for basic helix-loop-helix transcription factor (bHLH) responsible for the determination and the differenciation of the cellular line. The Robinow-Sorauf syndrome is currently considered as a phenotypical variant of this syndrome. Phenotypically similar cases can be due to a mutation of the FGFR2 gene (10q26.3), the TCF12 gene (15q21) or the FGFR2 gene (10q26.3) that can also produce the Muenke syndrome (see this term). The clinical phenotype is very variable: it can sometimes present as only blepharophimosis with or without craniosynostosis.

Association of:

-        a craniosynostosis of varying severity: the coronal suture is most often affected

-        facial dysmorphism: maxillary hypoplasia (flat facies), arched or cleft palate or bifid uvula, hypertelorism, low frontal hair line

-        palpebral anomalies: ptosis, lacrymal canal stenosis

-        cutaneous syndactyly (fingers 2 and 3), brachydactyly, duplication of the distal phalanx of the big toe

-        short stature, sometimes anomalies of vertebral fusion (scoliosis)

-        sometimes: cardiac or renal malformations

-        sometimes: conduction or neurosensorial deafness

Anesthetic implications:

echocardiography; obstructive sleep apneas; risk of intracranial hypertension; despite the facial dysmorphism, the risk of difficult intubation appears to be low.

References : 

-        Perkins JA, sie KC, Miczuk et al. 
Airway management in children with craniofacial anomalies. 
Cleft Palate-Craniofac J 1997; 34: 135-40. 

-        Wrigley MW.
Inadvertant dural puncture during caudal anaesthesia for Saethre- Chotzen syndrome.
Anaesthesia 1991; 46:705

-         Easely D, Mayhew JF. 
Anaesthesia in a child with Saethre-Chotzen syndrome. 
Pediatr Anesth 2008; 18: 81

-         Netke M, Carver E. 
Saethre-Chotzen syndrome and anesthesia. 
Pediatr Anesth 2008; 18: 1128

-         Sharma A, Patel N, Arora S, Ramachandran R. 
Child with Saethre-Chotzen syndrome : anesthetic management and literature review. 
Acta Anaesth Belg 2014; 65: 179-82.

Updated: April 2019