[MIM 611 174]

(Craniofacial dysplasia and osteopenia)

Rare: estimated prevalence < 1/1.000.000. Transmission: autosomal recessive of a mutation of the IRX5 gene on 16q11.2.

Clinical picture:

-         important hypertelorism with prominence of the midface; telecanthus

-         absence of lacrimal points (hypoplaia of tear ducts)

-         bone fragility with pathologic fractures; hypodontia

-         myopia

-         large and protruding ears with sensorineural deafness

-         mental retardation.

In most cases: intraventricular conduction abnormalities (wide QRS). Sometimes microcytic anemia.

Anesthetic implications: 

mental retardation; ECG; check hemoglobin levels; careful positioning (risk of fracture)

References : 

• Bonnard C, Strobl AC, Shboul M, Lee H, Merriman B et al. 
  Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1 (letter). 
  Nature Genetics 2012; 44: 709-13.
• Buget MI, Canbolat N, Akgul T, Kucukay S. 
  Anaesthesia and orphan disease : anaesthetic management of a child with Hamamy syndrome. 
  Eur J Anaesthesiol 2015 ; 32 : 891-3

Updated: April 2019