Very rare. Autosomal recessive transmission of mutations in the UBR1 gene on 15 q 14 - 21.1.

Malformative syndrome associating hypoplasia or aplasia of the nasal wings and insufficient exocrine pancreatic secretion (digestive malabsorption). 

Other elements:

-         localized alopecia

-         facial dysmorphism: convex nose, absence of eyelashes and eyebrows, micrognathia, 

-         dental abnormalities: oligodontia, absence of definitive teething

-         a short stature

-         microcephaly,

-         occasionally a transmission deafness.

There may also be a congenital heart disease (pulmonary atresia, TGV, ASD), an imperforate anus, urogenital malformations and endocrine abnormalities (hypothyroidism, diabetes mellitus, hypopituitarism).

Anesthetic implications: 

risk of difficult intubation. Cardiac ultrasound. Check the endocrine and renal functions.

References : 

-        Fichter CR, Johnson GA, Braddock SR, Tobias JD.
Perioperative care of the child with Johanson-Blizzard syndrome. 
Paediatr Anaesth 2003 ; 13 : 72-5.

Updated: March 2019