MONA syndrome
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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