Rare diseases · Sign or symptom
Abnormal pinna morphology
Abnormally shaped ears
HP:0000377
What it means
An abnormality of the pinna, which is also referred to as the auricle or external ear.
The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance.
Rare diseases that can present with this96
Very common80–99%
24- 8q22.1microdeletion syndrome
- Aase-Smith syndrome type 1
- Acrocraniofacial dysostosis
- Auriculocondylar syndrome
- Brain malformation-congenital heart disease-postaxial polydactyly syndrome
- Branchiogenic deafness syndrome
- Branchio-oculo-facial syndrome
- CHARGE syndrome
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Deafness-ear malformation-facial palsy syndrome
- Diprosopus
- Dysplastic cortical hyperostosis, Al-Gazali type
- Fetal hydantoin syndrome
- Hennekam syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Neurofaciodigitorenal syndrome
- Otopalatodigital syndrome type 2
- PEHO syndrome
- Richieri Costa-Pereira syndrome
- Sanjad-Sakati syndrome
- Toriello-Carey syndrome
- Townes-Brocks syndrome
- Trisomy 18p syndrome
- Zellweger syndrome
Common30–79%
37- 15q11.2microdeletion syndrome
- 16p11.2p12.2microdeletion syndrome
- 19p13.12microdeletion syndrome
- 20p13microdeletion syndrome
- 6q25.2q25.3microdeletion syndrome
- 8p11.2deletion syndrome
- 8p23.1microdeletion syndrome
- Aarskog-Scott syndrome
- ALG3-CDG
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- Blepharonasofacial malformation syndrome
- BOR syndrome
- Camptodactyly syndrome, Guadalajara type 3
- Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
- Feingold syndrome
- Fraser syndrome
- Hardikar syndrome
- Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
- Lacrimoauriculodentodigital syndrome
- Microphthalmia, Lenz type
- Microtia
- Mosaic trisomy 3 syndrome
- Mosaic trisomy 8 syndrome
- Oculodentodigital dysplasia
- Patterson-Stevenson-Fontaine syndrome
- Pelviscapular dysplasia
- Pelvis-shoulder dysplasia
- Pfeiffer-Palm-Teller syndrome
- Pili torti-onychodysplasia syndrome
- Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- Ring chromosome 3 syndrome
- Roberts syndrome
- Saethre-Chotzen syndrome
- Ulbright-Hodes syndrome
- Wolfram-like syndrome
- X-linked intellectual disability, Stevenson type
- Yunis-Varon syndrome
Sometimes5–29%
19- 3MC syndrome
- 9q33.3q34.11microdeletion syndrome
- ALG12-CDG
- Autosomal non-syndromic agammaglobulinemia
- Autosomal spastic paraplegia type 18
- Barber-Say syndrome
- Conductive deafness-malformed external ear syndrome
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
and 11 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: Abnormal form of ears · Auricular malformation · Deformed auricles · Deformed ears · Dysplastic ears · Malformation of auricle · Malformed auricles · Malformed ears
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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.