Rare diseases · Sign or symptom
Obstructive sleep apnea
HP:0002870
What it means
Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction.
Rare diseases that can present with this41
Common30–79%
17- Achondroplasia
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- Alacrimia-choreoathetosis-liver dysfunction syndrome
- Auriculocondylar syndrome
- Bohring-Opitz syndrome
- Cleft hard palate
- Contractures-developmental delay-Pierre Robin syndrome
- DNA2-related mitochondrial DNA deletion syndrome
- Mucolipidosis type II
- Prader-Willi syndrome
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Pycnodysostosis
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Steinert myotonic dystrophy
Sometimes5–29%
20- 13q12.3microdeletion syndrome
- AL amyloidosis
- Cherubism
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
- Craniofacial microsomia
- Geleophysic dysplasia
- Hypotonia-speech impairment-severe cognitive delay syndrome
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
and 12 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
Also called: Obstructive sleep apnoea
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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.