Resources » Syndrome Description


While the lungs themselves appear to be healthy in M-CM, there may be obstructive airway issues in this diagnosis. Collapse of the airway and/or voicebox due to inadequate support of the supporting cartilage within the airway is called tracheomalacia and laryngomalacia, respectively. These problems lead to partial airway collapse during breathing or postural changes that can cause a blockage of the airway.

This may sound like wheezing or stridor during normal breathing or sleep. Why this occurs in M-CM is not clear. It may be due to muscular hypotonia, the connective tissue problems of the condition, or a combination of factors. These problems are often seen in unaffected children as well. In otherwise normal children, typically the supportive cartilage in the airway grows with age, and the obstructive problems resolve on their own over time. However, the natural history of the pulmonary problems in M-CM are not well characterized.

To diagnose a problem with the airway, a pulmonary specialist may opt to do a scope to visualize the structure or dynamic function of the airway. For a child having respiratory or lung issues, a chest x-ray may also be ordered. It is important to be aware of possible underlying respiratory issues prior to any surgical intervention to prevent potential complications during sedation. There otherwise do not appear to be any other major lung concerns other than the potential for apnea in the case of brainstem compression (see the brain section).