Rare diseases · Sign or symptom
Abnormality of the outer ear
Abnormality of the external ear
HP:0000356
What it means
An abnormality of the external ear.
Rare diseases that can present with this36
Very common80–99%
13- 15q overgrowth syndrome
- 17q21.31microduplication syndrome
- 2q23.1microduplication syndrome
- 7p22.1microduplication syndrome
- Blepharophimosis-intellectual disability syndrome, Ohdo type
- CHIME syndrome
- Ear-patella-short stature syndrome
- FGFR2-related bent bone dysplasia
- Holoprosencephaly-radial heart renal anomalies syndrome
- Isotretinoin syndrome
- Kabuki syndrome
- Mandibulofacial dysostosis-microcephaly syndrome
- Orofaciodigital syndrome type 4
Common30–79%
13- 15q24microdeletion syndrome
- Branchiootic syndrome
- Distal deletion 10q syndrome
- Fraser syndrome
- Microcephaly-cardiomyopathy syndrome
- Proximal 3p25.3 microdeletion syndrome
- Recombinant 8 syndrome
- Schinzel-Giedion syndrome
- Seizures-scoliosis-macrocephaly syndrome
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- Treacher-Collins syndrome
- WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
- Weiss-Kruszka Syndrome
Sometimes5–29%
8The 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: Abnormal pinnae · Abnormality of the auricle · External ear malformation · External ear malformations · Malformed pinnae · Outer ear abnormality
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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.