Rare diseases · Sign or symptom
Preauricular pit
Pit in front of the ear
HP:0004467
What it means
Small indentation anterior to the insertion of the ear.
Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst.
Rare diseases that can present with this32
Very common80–99%
9Common30–79%
13- 8p11.2deletion syndrome
- Acrofacial dysostosis, Catania type
- Emanuel syndrome
- GMS syndrome
- Macrostomia-preauricular tags-external ophthalmoplegia syndrome
- Microcephaly-cardiac defect-lung malsegmentation syndrome
- Oculoauriculovertebral spectrum with radial defects
- Peters plus syndrome
- SPECC1L-related hypertelorism syndrome
- Tetralogy of Fallot
- Tetrasomy 5p syndrome
- Trisomy 13 syndrome
- Wolf-Hirschhorn syndrome
Sometimes5–29%
10- Distal deletion 3p syndrome
- KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- 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
- Opitz GBBB syndrome
- Patterson-Stevenson-Fontaine syndrome
- Spondylo-ocular syndrome
and 2 more in this range
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: Ear pit · Preauricular earpits · Preauricular fistulas · Preauricular pits · Preauricular sinus
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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.