Rare diseases · Sign or symptom
Abnormal heart morphology
Abnormality of the heart
HP:0001627
What it means
Any structural anomaly of the heart.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this156
Very common80–99%
13- 7p22.1microduplication syndrome
- 9q21.13microdeletion syndrome
- Common arterial trunk
- Congenitally corrected transposition of the great arteries
- Deletion 5q35 syndrome
- Dextrocardia
- Eisenmenger syndrome
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- Maternal phenylketonuria syndrome
- Mucopolysaccharidosis type 2
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Polysyndactyly-cardiac malformation syndrome
- Transketolase deficiency
Common30–79%
47- 14q24.1q24.3microdeletion syndrome
- 16p12.1p12.3triplication syndrome
- 17q11microdeletion syndrome
- 8p inverted duplication/deletion syndrome
- 8q24.3microdeletion syndrome
- Absence of the pulmonary artery
- ALG9-CDG
- Aortic arch interruption
- Cardiocranial syndrome, Pfeiffer type
- Coffin-Siris syndrome
- COG7-CDG
- Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
- Fixed subaortic stenosis
- FOXP1 Syndrome
- Frontometaphyseal dysplasia
- GM1 gangliosidosis
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- Isolated atrial standstill
- Isolated permanent neonatal diabetes mellitus
- Kabuki syndrome
- Kleefstra syndrome due to a point mutation
- Koolen-De Vries syndrome
- Limb body wall complex
- Methylmalonic acidemia with homocystinuria type cblF
- Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome
- Mosaic trisomy 16 syndrome
- Mowat-Wilson syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
- Pearson syndrome
- PHACE syndrome
- PMP22-RAI1 contiguous gene duplication syndrome
- RERE-related neurodevelopmental syndrome
- Rubinstein-Taybi syndrome
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Schinzel-Giedion syndrome
- Scimitar syndrome
- Short stature-webbed neck-heart disease syndrome
- Smith-Magenis syndrome
- Takenouchi-Kosaki syndrome
- THOC6-related developmental delay-microcephaly-facial dysmorphism 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, and Orphanet separately records 1 disease where this sign is specifically absent. 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 cardiac morphology · Abnormally shaped heart · Cardiac abnormality · Cardiac anomalies · Cardiac anomaly · Congenital heart defect · Congenital heart defects · Heart defect
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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.