Birth Defects

Birth defects of the throat are relatively uncommon but when they occur, they can be life-threatening since an infant’s ability to breath, eat and drink may be affected.  Defects of the throat and mouth are often a part of a broader congenital (present at birth) disorder that may be caused by genetic mutations in chromosomes, maternal drug abuse, environmental factors, trauma at birth or associated with prenatal infections.

Children with congenital defects of the throat can present with varying degrees of the following symptoms:

  • Weak, frail cry
  • Stridor – a high pitched wheezing sound
  • Difficulty breathing
  • Rapid breathing
  • Cyanosis – turning blue from lack of oxygen
  • Aspiration – choking and/or inhaling food into the lungs which can lead to frequent respiratory infections.

An evaluation and examination by a trained otolaryngologist (ENT specialist) such as Dr. Bailey, is key in identifying the defect and determining how to correct it.  An instrument called a laryngoscope is used to confirm diagnosis and is typically performed under general anesthesia.

  • Larynogmalacia – Laryngomalacia is the most common congenital laryngeal defect and makes up at least 60% of all congenital throat disorders. Due to abnormalities in the cartilage that helps support the larynx, those with laryngomalacia have a soft and floppy larynx that collapses on itself when breathing.  Although failure to thrive and respiratory distress can occur, they are rare and 99% of cases spontaneously resolve by 18-24 months of age.  Oxygen and close monitoring are important as sudden infant death syndrome (SIDS) can occur but otherwise, further intervention such as surgery is rarely needed.
  • Congenital Vocal Fold Paralysis – Most often associated with congenital neurologic disorders such as cerebral palsy, hydrocephalus and Spina Bifida, congenital vocal fold paralysis is the second most common congenital laryngeal abnormality. Vocal cord paralysis can also result from trauma during birth.  Symptoms vary in severity but typically include an ineffective cough, a hoarse cry, feeding difficulties and respiratory distress.  Close monitoring and speech therapy are mainstays of treatment, occasionally needing surgical intervention.

Numerous other forms of congenital throat disorders exist and can be effectively diagnosed and treated by a skilled otolaryngologist such as Dr. Bailey.  These include subglottic stenosis, laryngeal webs, laryngo-tracheo-esophageal clefts, laryngeal masses, thyroglossal ducts/cysts, abnormalities of the thymus, branchial cysts and many more.