Rare diseases · Sign or symptom
Protruding ear
Prominent ear
HP:0000411
What it means
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Rare diseases that can present with this112
Very common80–99%
34- 16q24.3microdeletion syndrome
- BRESEK syndrome
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- Ectodermal dysplasia-blindness syndrome
- Facial dysmorphism-shawl scrotum-joint laxity syndrome
- Faciocardiorenal syndrome
- Fallot complex-intellectual disability-growth delay syndrome
- Fibulo-ulnar hypoplasia-renal anomalies syndrome
- FOXG1 syndrome due to 14q12 microdeletion
- Harrod syndrome
- Hidrotic ectodermal dysplasia, Halal type
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
- Kabuki syndrome
- Koolen-De Vries syndrome
- McDonough syndrome
- Microcephaly-deafness-intellectual disability syndrome
- Monosomy 18p syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Otofaciocervical syndrome
- Radioulnar synostosis-developmental delay-hypotonia syndrome
- Toluene embryopathy
- Trichorhinophalangeal syndrome type 1
- Trichorhinophalangeal syndrome type 2
- Trisomy 20p syndrome
- Trisomy 5p syndrome
- Trisomy 9p syndrome
- Williams syndrome
- Woodhouse-Sakati syndrome
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
- X-linked intellectual disability, Golabi-Ito-Hall type
- X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
- X-linked mandibulofacial dysostosis
- X small rings syndrome
Common30–79%
35- 2p15p16.1microdeletion syndrome
- 3M syndrome
- Aicardi syndrome
- Alagille syndrome
- Autosomal recessive chorioretinopathy-microcephaly syndrome
- Birk-Barel syndrome
- Cleft lip/palate-ectodermal dysplasia syndrome
- Cleft palate-large ears-small head syndrome
- Coffin-Lowry syndrome
- Combined immunodeficiency with facio-oculo-skeletal anomalies
- Congenital unilateral hypoplasia of depressor anguli oris
- Corpus callosum agenesis-abnormal genitalia syndrome
- Dubowitz syndrome
- Fragile X syndrome
- Frank-Ter Haar syndrome
- Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Intellectual disability-myopathy-short stature-endocrine defect syndrome
- Johnson neuroectodermal syndrome
- Monosomy 13q14 syndrome
- Mosaic trisomy 8 syndrome
- Nance-Horan syndrome
- Oculocerebrorenal syndrome of Lowe
- Osteoglosphonic dysplasia
- PYCR2-related microcephaly-progressive leukoencephalopathy
- Pyle disease
- Say-Barber-Miller syndrome
- Schuurs-Hoeijmakers syndrome
- Sheldon-Hall syndrome
- Silver-Russell syndrome due to an imprinting defect of 11p15
- Thumb deformity-alopecia-pigmentation anomaly syndrome
- Trisomy 8q syndrome
- Van den Ende-Gupta syndrome
- Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
- X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
- X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Sometimes5–29%
10- 15q13.3microdeletion syndrome
- 17q23.1q23.2microdeletion syndrome
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- Autosomal dominant cutis laxa
- Autosomal dominant primary microcephaly
- Autosomal recessive centronuclear myopathy
- Cenani-Lenz syndrome
- Distal 17p13.1 microdeletion 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: Prominent ears · Protruding 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.