[MIM 259 600, 277 950]

Acronym for Multicentric Osteolysis-Nodulosis-Arthropathy.

(Torg syndrome, Torg-Winchester syndrome, Al-Aqeel Sewairi syndrome, NAO syndrome,  hereditary multicentric osteolysis)

Rare. Autosomal recessive transmission of a mutation of the  MMP2 gene on 16q13-q21 or MMP14 gene on 14q11-q12. First manifestation between 1 and 5 years of age. Chronic bone disease that includes formerly distinct syndromes (see synonyms above) with similar phenotypes and a common genetic origin (different mutations of the same gene and intrafamilial variability). Association of:

-        osteolytic lesions that begin at the level of the carpus and tarsus with an enlargement of the carpus and tarsus, and which extend to closest joints before spreading everywhere: these lesions produce small hands and feet

-        erosion of the interphalangeal joints that causes contractures

-        cutaneous fibrous nodules, painful or not

-        facial dysmorphism: hypertelorism, prominent frontal bossing, gingival hypertrophy, corneal opacity, hypertrichosis

-        sometimes also: generalized osteoporosis, short stature, scoliosis

-        occasionally: mitral valve prolapse, transposition of the great vessels, ASD, VSD, bicuspid aortic valve

Anesthetic implications:

cardiac ultrasound; risk of difficult intubation in case of involvement of the cervical vertebrae; careful positioning (osteoporosis).

References : 

-         Herd RS, Sprung J, Weingarten TN. 
Primary osteolysis syndromes: beware of difficult airway. 
Pediatr Anesth 2015; 25: 727-37.

Updated: December 2018