[MIM 101 600]

(Noack syndrome, acrocephalosyndactyly type V)

Prevalence: 1/200,000. Autosomal dominant transmission of a mutation of the FGR1 (fibroblast growth factor receptor) (8p11.2 - p11) or FGR2 gene (10q26) for types 2 and 3. Combines craniosynostosis, exophthalmos, maxillary hypoplasia, and partial syndactyly with broad thumbs and toes. In 30 % of cases, a malformation of the vertebrae (fusion) is present. Sometimes cardiac malformation (ASD, VSD, Fallot) and intestinal malrotation.

Different types:

-        type 1:  classic but moderate form

-        type 2: cloverlea-shaped skull in , major exophthalmos, shoulder ankylosis, syndactyly, frequent neurological complications

-        type 3: similar to type 2 but no cloverleaf-shaped skull.

In some cases (mostly FGR2 mutations), the tracheal rings do not develop and are replaced by a rigid continuous cartilaginous sleeve ("tracheal cartilaginous sleeve') with a risk of intraluminal proliferation of granulation tissue (8-shaped or keyhole-shaped picture) and a smaller than average tracheal diameter: it manifests as biphasic stridor and ventilation difficulties , and is often an indication of tracheostomy.

Anesthetic implications:

central and obstructive apnea (50 %) Difficult intubation. Difficult peripheral venous access. Risk of severe obstruction of the upper airway at induction: a nasopharyngeal tube or a laryngeal mask is useful. The laryngoscopy is usually easy , but it  can become difficult after fronto-facial maxillary distraction.

In case of difficult ventilation, suspect a tracheal malformation (cartilaginous sleeve). In case of tracheotomy: high risk of obstruction with granulation tissue

References : 

• Tobias JD, Jimenez DF, Barone CM, Parsons DS. 
  Anesthetic implications of Pfeiffer syndrome. 
  Am J Anesthesiol  1998; 25: 79-83.
• Meyer P, Renier D, Blanot S, Orliaguet G, Arnaud E, Lajeunie E. 
  Anesthesia and intensive care of craniostenosis and craniofacial dysmorphism in children. 
  Ann Fr Anesth Reanim  1997; 16:152-64.
• Lertsburapa K, Schroeder JW Jr, Sullivan C. 
  Tracheal cartilaginous sleeve in patients with craniosynostosis syndromes: a meta-analysis. 
  J Pediatr Surg 2010; 45: 1438-44.
• Addo NK, Javadpour S, Kandasamy J, Sillifant P, May P, Sinha A. 
  Central sleep apnea and associated Chiari malformation in children with syndromic craniosynostosis: treatment and outcome data from a supraregional craniofacial center. 
  J Neurosurg Pediatrics 2013; 296-301.
• Colomb C, Hippard HK, Canadas K, Watcha M. 
  A delayed finding of a tracheal cartilaginous sleeve in a patient with Pfeiffer syndrome type 2 and a complex airway history. 
  A&A Case Reports 2015; 5: 36-9. 
• Venkat Raman V, de Beer D.
  Perioperative airway complications in infants and children xith Crouzon and Pfeiffer syndromes : a single-center experience.
  Pediatr Anesth 2021 ; 31 : 1316-24.
• Noble AR, Cunningham ML, Lam A, Wenger TL, Sie KC et al.
  Complex airway management in patients with tracheal cartilaginous sleeves.
  Laryngoscope 2022; 132:215-21

Updated: January 2022