Rare diseases · Sign or symptom
Patent ductus arteriosus
HP:0001643
What it means
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Rare diseases that can present with this183
Very common80–99%
13- Char syndrome
- Distal deletion 17q syndrome
- Distal Xq28 microduplication syndrome
- Double outlet left ventricle
- Epiphyseal stippling-osteoclastic hyperplasia syndrome
- Heart defect-tongue hamartoma-polysyndactyly syndrome
- Loeys-Dietz syndrome
- Microphthalmia-microtia-fetal akinesia syndrome
- Multifocal infantile hemangioma with extracutenous involvement
- Neuronal intestinal pseudoobstruction
- Restrictive dermopathy
- Short stature-wormian bones-dextrocardia syndrome
- Trisomy 13 syndrome
Common30–79%
38- 14q11.2microdeletion syndrome
- 17q23.1q23.2microdeletion syndrome
- 6p22microdeletion syndrome
- Abnormal origin of right or left pulmonary artery from the aorta
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Cantú syndrome
- CHARGE syndrome
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Congenital alveolar capillary dysplasia
- Congenitally uncorrected transposition of the great arteries
- Congenital rubella syndrome
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Craniofaciofrontodigital syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- CTCF-related neurodevelopmental disorder
- Deafness-craniofacial syndrome
- Distal duplication 14q syndrome
- Dysmorphism-short stature-deafness-difference of sex development syndrome
- Ebstein malformation of the tricuspid valve
- Familial aortic dissection
- Fixed subaortic stenosis
- Gorlin-Chaudhry-Moss syndrome
- Hereditary orotic aciduria
- Hydrocephaly-low insertion umbilicus syndrome
- Isotretinoin-like syndrome
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Lethal faciocardiomelic dysplasia
- Lung agenesis-heart defect-thumb anomalies syndrome
- Microcephaly-seizures-intellectual disability-heart disease syndrome
- Monosomy 18q syndrome
- Mowat-Wilson syndrome
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Orofaciodigital syndrome type 14
- Periventricular nodular heterotopia
- Pulmonary atresia-intact ventricular septum syndrome
- Ramos-Arroyo syndrome
- Recombinant 8 syndrome
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: Ductus arteriosus · Patent ductus Botalli · PDA · Persistent arterial duct · Persistent ductus arteriosus
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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.