Larynx atresia

Larynx atresia (also known as laryngeal atresia or congenital laryngeal atresia) is an extremely rare and life-threatening congenital malformation in which the larynx (voice box) fails to develop a patent airway during fetal development. This results in complete or near-complete obstruction of the upper airway at birth. The condition primarily affects the respiratory system, as the blocked larynx prevents air from reaching the lungs. During fetal life, the obstruction prevents normal drainage of lung fluid, which can lead to massively enlarged, fluid-filled lungs (pulmonary hyperplasia), flattening or inversion of the diaphragm, and fetal hydrops — a constellation of findings known as congenital high airway obstruction syndrome (CHAOS), which may be detected on prenatal ultrasound or fetal MRI. Affected neonates are unable to cry or breathe at birth and require immediate emergency airway intervention to survive. Without rapid establishment of an airway — typically through an emergency tracheostomy or the EXIT (Ex Utero Intrapartum Treatment) procedure performed during a planned cesarean delivery — the condition is uniformly fatal. Larynx atresia may occur as an isolated malformation or in association with other congenital anomalies, including those of the cardiovascular, genitourinary, or gastrointestinal systems. It has been reported in the context of Fraser syndrome (cryptophthalmos-syndactyly syndrome), an autosomal recessive condition. The prognosis depends heavily on the timing of diagnosis, the presence of associated anomalies, and the availability of specialized neonatal surgical care. Long-term management may involve tracheostomy-dependent breathing, reconstructive airway surgery, and multidisciplinary follow-up including pulmonology, otolaryngology, and speech therapy.

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

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Source: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months

Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC

Common questions about Larynx atresia