Rare diseases · Sign or symptom
Abnormal antihelix morphology
HP:0009738
What it means
An abnormality of the antihelix.
An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis.
Rare diseases that can present with this35
Very common80–99%
18- 8q22.1microdeletion syndrome
- Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
- Deafness-ear malformation-facial palsy syndrome
- Distal deletion 9p syndrome
- Flat face-microstomia-ear anomaly syndrome
- FOXG1 syndrome due to 14q12 microdeletion
- Intellectual disability-polydactyly-uncombable hair syndrome
- Mandibulofacial dysostosis-microcephaly syndrome
- Monosomy 18p syndrome
- Monosomy 9p syndrome
- Non-distal duplication 13q syndrome
- Otoonychoperoneal syndrome
- Postaxial polydactyly-dental and vertebral anomalies syndrome
- Ring chromosome 10 syndrome
- Scalp-ear-nipple syndrome
- Trisomy 12p syndrome
- Trisomy 4p syndrome
- Upper limb defect-eye and ear abnormalities syndrome
Common30–79%
9- Acrofacial dysostosis, Weyers type
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Craniosynostosis, Herrmann-Opitz type
- Dubowitz syndrome
- Mosaic trisomy 8 syndrome
- Otofaciocervical syndrome
- Saethre-Chotzen syndrome
- Trisomy 13 syndrome
Sometimes5–29%
8- Cataract-intellectual disability-hypogonadism syndrome
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
- Distal 22q11.2 microduplication syndrome
- Holoprosencephaly
- Intellectual disability-balding-patella luxation-acromicria syndrome
- Spondylo-ocular syndrome
- TARP syndrome
- Trisomy 20p 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: Abnormal antehelix · Abnormal anthelix · Abnormal antihelix
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.