Rare diseases · Sign or symptom
Laryngomalacia
Softening of voice box tissue
HP:0001601
What it means
Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration.
Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor.
Rare diseases that can present with this52
Very common80–99%
10Common30–79%
10- Congenital tracheomalacia
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Hydrolethalus
- Kagami-Ogata syndrome
- Laryngotracheoesophageal cleft
- Laryngotracheoesophageal cleft type 4
- Pfeiffer syndrome type 2
- VACTERL/VATER association
- Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
- X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Sometimes5–29%
30- 22q11.2deletion syndrome
- 2p15p16.1microdeletion syndrome
- 2q37microdeletion syndrome
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- Cenani-Lenz syndrome
- Cerebellar-facial-dental syndrome
- CHARGE syndrome
and 22 more in this range
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.