[MIM 614 732]

Very rare. Acronym for Intrauterine growth retardation, Metaphyseal dysplasia, congenital Adrenal hypoplasia, Genital anomalies. Autosomal dominant transmission of a pathogenic variant of the CDKN1C gene on 11p15.4. The disease develops only if the gene is of maternal origin. 
Different aspects:

-         facial dysmorphism: frontalbossing,  low set ears, broad nasal bridge; sometimes triangular facies with micrognathia; rarely: cleft palate (or bifid uvula)

-         short stature: intrauterine and postnatal growth retardation

-         metaphyseal dysplasia: short limbs, osteopenia; sometimes early scoliosis

-         adrenal insufficiency: Addisonian crisis  [hypoNa, hyperK, hypoglycemia, hypotension] during the first month of life, sometimes later

-         genital anomalies: micropenis, cryptorchidism, hypospadias

Anesthetic implications:

adapt the substitution dose of cortisone ; short stature; risk of difficult mask ventilation and intubation in case of micrognathia

References : 

-        Pedreira CC, Savarirayan R, Zacharin MR. 
IMAGe syndrome : a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. 
J Pediatr 2004; 144: 274-7.

-         Lindemeyer RG, Rashewsky SE, Louie PJ et al. 
Anesthetic and dental management of a child with IMAGe syndrome. 
Anesth Prog 2014; 61: 165-8.

Updated: March 2019