Rare diseases · Sign or symptom
Macrotia
Large ears
HP:0000400
What it means
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used.
Rare diseases that can present with this145
Very common80–99%
41- 8p inverted duplication/deletion syndrome
- Abruzzo-Erickson syndrome
- Acromegaly
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
- Chondrodysplasia-difference of sex development syndrome
- Christianson syndrome
- Cleft lip/palate-ectodermal dysplasia syndrome
- Cleft palate-large ears-small head syndrome
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- Dermotrichic syndrome
- Flat face-microstomia-ear anomaly syndrome
- Histidinuria-renal tubular defect syndrome
- Intellectual disability, Buenos-Aires type
- Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
- Intellectual disability, Wolff type
- Kabuki syndrome
- Lenz-Majewski hyperostotic dysplasia
- McDonough syndrome
- Microcephaly-brachydactyly-kyphoscoliosis syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Nijmegen breakage syndrome
- Norrie disease
- Otofaciocervical syndrome
- Otoonychoperoneal syndrome
- Paternal 20q13.2q13.3 microdeletion syndrome
- PEHO syndrome
- Phelan-McDermid syndrome
- PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
- Prominent glabella-microcephaly-hypogenitalism syndrome
- Pseudoleprechaunism syndrome, Patterson type
- Ring chromosome 6 syndrome
- Somatomammotropinoma
- SSR4-CDG
- Trichorhinophalangeal syndrome type 1
- Trisomy 4p syndrome
- Trisomy 9p syndrome
- Weaver syndrome
- Williams syndrome
- X-linked intellectual disability, Cilliers type
- X-linked intellectual disability, Shashi type
Common30–79%
39- 3q29microdeletion syndrome
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Alpha-mannosidosis
- Arterial tortuosity syndrome
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- Atkin-Flaitz syndrome
- Cardiofaciocutaneous syndrome
- Cerebrooculonasal syndrome
- Diencephalic syndrome
- Distal deletion 10p syndrome
- Distal duplication 5q syndrome
- Distal monosomy 7q36 syndrome
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- Emanuel syndrome
- Fallot complex-intellectual disability-growth delay syndrome
- Fragile X syndrome
- Fried syndrome
- Galloway-Mowat syndrome
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- Holzgreve syndrome
- Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
- KBG syndrome
- Lower limb malformation-hypospadias syndrome
- MAN1B1-CDG
- Marfanoid habitus-autosomal recessive intellectual disability syndrome
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
- Micro syndrome
- Monosomy 18p syndrome
- Monosomy 18q syndrome
- Mosaic trisomy 8 syndrome
- Neu-Laxova syndrome
- Noonan syndrome-like disorder with loose anagen hair
- Oculo-palato-cerebral syndrome
- Patterson-Stevenson-Fontaine syndrome
- Pontocerebellar hypoplasia type 7
- Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
- Proteus syndrome
- Renpenning 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: Large pinnae
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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.