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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Laryngomalacia


Other Names for this Disease

  • Congenital laryngeal stridor
  • Congenital laryngomalacia
  • Laryngomalacia congenital
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Overview

What is laryngomalacia?

Is laryngomalacia inherited?

What is laryngomalacia?

Laryngomalacia is an abnormality of the cartilage of the voice box (larynx) that is present at birth. The condition is characterized by "floppy" cartilage collapsing over the larynx when air is drawn into the lungs (inspiration), leading to airway obstruction. This obstruction causes a noise which may sound like nasal congestion or may be a more high-pitched sound (stridor). Airway sounds typically begin at 4-6 weeks of age. Affected infants have a higher risk of gastroesophageal reflux, and in severe cases may have feeding problems. In rare cases, hypoxemia or hypoventilation may interfere with normal growth and development. The cause of this condition is unknown, but it is thought to be due to delayed maturation of the supporting structures of the larynx. In more than 90% of cases it gradually improves on its own, and noises disappear by age 2 in virtually all infants.[1]
Last updated: 10/22/2012

Is laryngomalacia inherited?

Laryngomalacia may be inherited in some instances. Only a few cases of familial laryngomalacia (occurring in more than one family member) have been described in the literature.[2] In some of these cases, autosomal dominant inheritance has been suggested.[2]

Laryngomalacia has also been reported as being associated with various syndromes.[2] In cases where these specific syndromes are inherited, a predisposition to being born with laryngomalacia may be present. However, even within a family, not all individuals affected with one of these syndromes will have the exact same signs and symptoms (including laryngomalacia). Syndromes that have been associated with laryngomalacia include diastrophic dysplasia, alopecia universalis congenital, XY gonadal dysgenesis, Costello syndrome, DiGeorge syndrome, and acrocallosal syndrome.[2] The inheritance pattern depends upon the specific syndrome present.
Last updated: 10/22/2012

References
  1. Stephanie Lovinsky-Desir. Laryngomalacia. Medscape Reference. May 24, 2012; http://emedicine.medscape.com/article/1002527-overview. Accessed 10/16/2012.
  2. Chen JL, Messner AH, Chang KW. Familial laryngomalacia in two siblings with syndromic features. Int J Pediatr Otorhinolaryngol. September 2006; 70(9):1651-1655.


Other Names for this Disease
  • Congenital laryngeal stridor
  • Congenital laryngomalacia
  • Laryngomalacia congenital
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.