Rare diseases · Sign or symptom
Low-set ears
Low set ears
HP:0000369
What it means
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Rare diseases that can present with this286
Very common80–99%
79- 15q overgrowth syndrome
- 22q11.2deletion syndrome
- 47,XYY syndrome
- 8q21.11microdeletion syndrome
- 8q22.1microdeletion syndrome
- Acrocardiofacial syndrome
- Acrofacial dysostosis, Palagonia type
- Adenylosuccinate lyase deficiency
- AICA-ribosiduria
- Autosomal recessive cutis laxa type 2, classic type
- Autosomal recessive omodysplasia
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Blomstrand lethal chondrodysplasia
- BRESEK syndrome
- Cardiocranial syndrome, Pfeiffer type
- Cloverleaf skull-multiple congenital anomalies syndrome
- Conductive deafness-malformed external ear syndrome
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- Deafness-intellectual disability syndrome, Martin-Probst type
- De Barsy syndrome
- Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
- Distal deletion 1q syndrome
- Distal deletion 6p syndrome
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- Facial dysmorphism-shawl scrotum-joint laxity syndrome
- Fetal trimethadione syndrome
- FGFR2-related bent bone dysplasia
- Focal facial dermal dysplasia type II
- GAPO syndrome
- Genitopalatocardiac syndrome
- Gómez-López-Hernández syndrome
- Hennekam syndrome
- Hypertelorism-hypospadias-polysyndactyly syndrome
- Hypomandibular faciocranial dysostosis
- IMAGe syndrome
- Imperforate oropharynx-costovertebral anomalies syndrome
- Kapur-Toriello syndrome
- Lateral meningocele syndrome
- Mandibulofacial dysostosis-microcephaly syndrome
- Marden-Walker syndrome
- Maternal uniparental disomy of chromosome 9 syndrome
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microcephaly-brachydactyly-kyphoscoliosis syndrome
- Microcephaly-cervical spine fusion anomalies syndrome
- Microcephaly-deafness-intellectual disability syndrome
- Monosomy 9p syndrome
- Monosomy 9q22.3 syndrome
- Mosaic trisomy 9 syndrome
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- Neurofaciodigitorenal syndrome
- Non-syndromic bilambdoid and sagittal craniosynostosis
- Orofaciodigital syndrome type 4
- Osteosclerotic bone dysplasia
- Otopalatodigital syndrome type 2
- Pelviscapular dysplasia
- Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
- PHAVER syndrome
- Renal agenesis, bilateral
- Restrictive dermopathy
- Ring chromosome 10 syndrome
- Rubinstein-Taybi syndrome
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Short stature-wormian bones-dextrocardia syndrome
- Shprintzen-Goldberg syndrome
- Sialuria
- Silver-Russell syndrome
- TMEM70-related mitochondrial encephalo-cardio-myopathy
- Toluene embryopathy
- Trisomy 13 syndrome
- Trisomy 17p syndrome
- Trisomy 1q syndrome
- Verloove Vanhorick-Brubakk syndrome
- Wrinkly skin syndrome
- X-linked dominant chondrodysplasia, Chassaing-Lacombe type
- X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant 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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Low-set pinnae · Lowset ears · Melotia
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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.