Rare diseases · Sign or symptom
Overfolded helix
Overfolded ears
HP:0000396
What it means
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable.
Rare diseases that can present with this29
Very common80–99%
7Common30–79%
15- 22q11.2deletion syndrome
- 6p22microdeletion syndrome
- Autosomal recessive faciodigitogenital syndrome
- Conductive deafness-malformed external ear syndrome
- Contractures-developmental delay-Pierre Robin syndrome
- Diastrophic dysplasia
- Hypospadias-intellectual disability, Goldblatt type syndrome
- Imperforate oropharynx-costovertebral anomalies syndrome
- Mandibulofacial dysostosis-microcephaly syndrome
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- PHAVER syndrome
- Schwartz-Jampel syndrome
- Townes-Brocks syndrome
- Urban-Rogers-Meyer syndrome
- X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Sometimes5–29%
5The 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: Over-folded helices · Overfolded helices
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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.