Laryngomalacia is the most common congenital anomaly of the larynx, and is characterized by abnormality in the development of the laryngeal cartilage. This results in a floppy tissue over the larynx that causes airway obstruction upon inspiration. Infants with mild or moderate laryngomalacia present with noisy breathing and/or frequent incidences of vomiting and spitting up, without any other significant symptom. Children with the severe form of the disease may have life-threatening apneas, cyanotic spells, failure to thrive, and chronic oxygen deprivation resulting in cardiac and/or pulmonary complications. The inspiratory noises usually begin around the age of 4-weeks, and peak at around 8-months. Gastro Esophageal Reflux Disease (GERD) may frequently be associated with laryngomalacia.
Diagnosis of laryngomalacia is based on clinical examination and history. Radiographic evaluation may be required to localize and characterize the lesion before endoscopy, or medical or surgical management. Infants with the self-limiting mild or moderate form of the condition usually outgrow it by the time they reach 2-years of age. However, those with the severe form of the disease may require intervention. Those with oxygen deprivation need to be administered supplemental oxygen. About 10% of cases of laryngomalacia are severe enough to warrant surgical intervention. A supraglottoplasty can be performed to trim away the floppy tissue over the larynx. Some patients may need the insertion of a tracheotomy tube in addition to the supraglottoplasty.
Familial cases of laryngomalacia are extremely rare, with only a handful of families with the condition being reported worldwide. In the few cases where a genetic basis for the condition is obvious, the mode of transmission seems to be autosomal dominant.