Rare diseases · Sign or symptom
Cyanosis
Blue discoloration of the skin
HP:0000961
What it means
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.
Rare diseases that can present with this68
Very common80–99%
11- Autosomal recessive methemoglobinemia
- Common arterial trunk
- Congenital fibrinogen deficiency
- Congenitally uncorrected transposition of the great arteries
- Congenital pulmonary lymphangiectasia
- Criss-cross heart
- Double outlet right ventricle
- Isolated right ventricular hypoplasia
- Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
- Tetrasomy 5p syndrome
- Tricuspid atresia
Common30–79%
26- Abnormal origin of right or left pulmonary artery from the aorta
- Acquired methemoglobinemia
- Acute interstitial pneumonia
- Aortic arch interruption
- Apnea of prematurity
- Autoimmune pulmonary alveolar proteinosis
- Cardiogenic shock
- Cardiomyopathy-hypotonia-lactic acidosis syndrome
- Classic glucose transporter type 1 deficiency syndrome
- Complete atrioventricular septal defect
- Congenital lobar emphysema
- Congenital myasthenic syndrome
- Congenital total pulmonary venous return anomaly
- Congenital tricuspid valve dysplasia
- Double outlet left ventricle
- Ebstein malformation of the tricuspid valve
- Generalized arterial calcification of infancy
- High altitude pulmonary edema
- Kallmann syndrome-heart disease syndrome
- Laryngotracheoesophageal cleft
- Necrotizing enterocolitis
- Pediatric acute respiratory distress syndrome
- Presynaptic congenital myasthenic syndrome
- Primary pulmonary hypoplasia
- Pulmonary capillary hemangiomatosis
- TARP syndrome
Sometimes5–29%
29- Absence of the pulmonary artery
- Airway infantile hemangioma
- Asbestos intoxication
- Atrial septal defect, ostium primum type
- Carnitine-acylcarnitine translocase deficiency
- Choanal atresia
- Chronic pneumonitis of infancy
- Combined oxidative phosphorylation defect type 23
and 21 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
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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.