Rare diseases · Sign or symptom
Abnormal helix morphology
HP:0011039
What it means
An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe.
Rare diseases that can present with this24
Very common80–99%
7- Endocardial fibroelastosis
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- Fetal trimethadione syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Neurofibromatosis-Noonan syndrome
- Otoonychoperoneal syndrome
- Pitt-Hopkins syndrome
Common30–79%
10The 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 helices · Abnormality of the helix · Helix abnormal
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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.