Rare diseases · Sign or symptom
Abnormal cardiac septum morphology
HP:0001671
What it means
An anomaly of the intra-atrial or intraventricular septum.
Rare diseases that can present with this60
Very common80–99%
10- Atrial septal defect-atrioventricular conduction defects syndrome
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- Cartilage-hair hypoplasia
- Diprosopus
- Distal deletion 17q syndrome
- Genitopalatocardiac syndrome
- Intellectual disability, Buenos-Aires type
- Isolated congenital laryngeal web
- Oculofaciocardiodental syndrome
- Tracheal agenesis
Common30–79%
28- 1q44microdeletion syndrome
- 8p23.1microdeletion syndrome
- Burn-McKeown syndrome
- CHARGE syndrome
- Dislocation of the hip-dysmorphism syndrome
- Ebstein malformation of the tricuspid valve
- Eng-Strom syndrome
- Fanconi anemia
- Fryns syndrome
- Holoprosencephaly-postaxial polydactyly syndrome
- Kabuki syndrome
- Kleefstra syndrome due to 9q34 microdeletion
- Koolen-De Vries syndrome
- Laryngotracheoesophageal cleft type 4
- Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
- Melnick-Needles syndrome
- Microphthalmia with linear skin defects syndrome
- Mowat-Wilson syndrome
- Myhre syndrome
- Neuronal intestinal pseudoobstruction
- Otopalatodigital syndrome type 2
- Peters plus syndrome
- PHACE syndrome
- Syndactyly-telecanthus-anogenital and renal malformations syndrome
- Tetraamelia-multiple malformations syndrome
- Toriello-Carey syndrome
- VACTERL/VATER association
- Wolf-Hirschhorn 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: Abnormality of the cardiac septa · Heart septal defect · Septal defects
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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.