[MIM 154 400]

(Nager type acrofacial Dysostosis, pre-axial acrodysostosis )

Very rare. Sporadic cases or autosomal dominant transmission of a mutation of the SFR3B4 gene (1q21.2) coding for the SAP49 protein. The SAP49 protein plays an important role in the maturation of bones and cartilages..

Acrofacial dysostosis associating:

-        facial dysmorphism similar to Franceschetti-Klein or Treacher Collins syndrome: bilateral (sometimes asymmetric) hypoplasia of the mandible and maxilla, hypoplasia of the zygomatic arch and malar bones, malformation of ears, atresia of the auditory canal, coloboma of the lower eyelid , cleft palate (70 %) or high-arched palate, downslanting palpebral fissures. Moreover, a malformation of the temporomandibular joint is often associated. Cases of aplasia/hypoplasia of the epiglottis have been described.

-        abnormalities of the upper limbs: hypoplasia of the radius (and sometimes radio-ulnar synostosis) with hypoplastic or absent thumbs.

Hair implantation in front of the ears. Sometimes CHD: patent ductus arteriosus, VSD, tetralogy of Fallot. Normal intelligence.

Anesthetic implications:

obstructive apnea. Echocardiography. Major risk of difficult mask ventilation and intubation. Atypical laryngoscopy in case of absent or rudimentary epiglottisA nasopharyngeal airway is very helpful during induction and recovery. Fiberscopic intubation through a supraglottic device. Use of a C-MAC D adult blade partially introduced in the mouth has been helpful in two pediatric cases. Management of a patient with a cleft palate.

References : 

• Walker JS, Dorian RS, Marsh N.
  Anesthetic management of a child with Nager’s syndrome.
  Anesth Analg 1994; 79: 1025-6.
• Lean LL, King C.
  Use of C-MAC adult D blade in paediatric patients with Nager syndrome.
  Anaesth & Intens Care 2016; 44: 647-8.
• Groeper K, Johnson JO, Braddock SR, Tobias JD. 
  Anaesthetic implications of Nager syndrome. 
  Paediatr Anaesth 2002; 12: 365-8.
• Przybylo HJ, Stevenson GW, Vicari FA, Horn B, Hall SC. 
  Retrograde fiberoptic intubation in a child with Nager's syndrome. 
  Can J Anaesth 1996; 43: 697-9.
• Friedman RA, Wood E, Pransky SM, Seid AB, Kearns DB. 
  Nager acrofacial dysostosis: management of a difficult airway. 
  Int J Pediatr Otorhinolaryngol 1996; 35: 69-72.
• Lin J-L. 
  Nager syndrome: a case report. 
  Pediatrics and Neonatology 2012; 53: 147-50. 
• Geneviève D, Captier G, Blanchet C. 
  Syndromes avec fentes labiopalatines. 
  In Syndromes dysmorphiques  coordonné par Lacombe D et Philip N, Collection Progrès en Pédiatrie,  Doin 2013, p 261-82.
• Belanger C, Villedieu F, Gerard M,Guillois B. 
  Syndrome de Nager associé à une tétralogie de Fallot : une association fréquente ? 
  Arch Pédiatr 2015 ; 22 :974-7. 
• Tay SY, Loh WS, Lim TC.
  A case report of absent epiglottis in children with Nager syndrome: its impact on swallowing.
  Cleft Palate-Craniofacial Journal 2017; 54: 754-7        

Updated: August 2020