Laryngomalacia

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the respiratory system

OMIM Number

150280

Mode of Inheritance

Autosomal dominant

Description

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.

 

Epidemiology in the Arab World

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Other Reports

Kuwait

Al-Awadi et al. (1996) described a Kuwaiti family with nine members affected with laryngomalacia. The proband was a male infant born to non-consanguineous parents. He was evaluated at 1-month of age due to laryngomalacia along with some Marfanoid features. He was found to have a narrow forehead, flat supra-orbital ridge, triangular face, broad nasal bridge, and blue sclera. He was followed up regularly until 1-year of age. The stridor decreased in severity and his development was satisfactory. Pedigree analysis revealed his mother, maternal grandmother and two of her sibs, three of his mother's first cousins, and one his first cousins to have suffered from laryngomalacia.

[Al-Awadi SA, Shaheen WA, Bastaki L, Gouda SAR, Naguib KK. Familial laryngomalacia: a case report of 9 affected relatives. Alex J Pediatr. 1996; 1:23-5.]

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