Rare diseases · Sign or symptom
Proptosis
Bulging eye
HP:0000520
What it means
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face.
Rare diseases that can present with this149
Very common80–99%
33- 14q22q23microdeletion syndrome
- Acrocraniofacial dysostosis
- Aminopterin/methotrexate embryofetopathy
- Apert syndrome
- Autosomal recessive distal osteolysis syndrome
- Baller-Gerold syndrome
- Blomstrand lethal chondrodysplasia
- Branchioskeletogenital syndrome
- Camptodactyly-joint contractures-facial skeletal defects syndrome
- Cole-Carpenter syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Craniometadiaphyseal dysplasia, wormian bone type
- Cutaneous mastocytosis-deafness-microtia syndrome
- Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- Desbuquois syndrome
- Distal deletion 9p syndrome
- Erdheim-Chester disease
- Fibrochondrogenesis
- Kniest dysplasia
- Marshall-Smith syndrome
- Melnick-Needles syndrome
- Microcephalic osteodysplastic dysplasia, Saul-Wilson type
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microcephaly-cervical spine fusion anomalies syndrome
- Multicentric carpo-tarsal osteolysis with or without nephropathy
- Noonan syndrome
- Pfeiffer syndrome type 2
- Pfeiffer syndrome type 3
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Shprintzen-Goldberg syndrome
- SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
- Spinocerebellar ataxia-dysmorphism syndrome
- Spinocerebellar ataxia type 3
Common30–79%
47- 20q11.2microduplication syndrome
- Antley-Bixler syndrome
- Autism spectrum disorder due to AUTS2 deficiency
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- Autosomal dominant Robinow syndrome
- Autosomal recessive Robinow syndrome
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- Beckwith-Wiedemann syndrome
- Bohring-Opitz syndrome
- Campomelic dysplasia
- CINCA syndrome
- Craniosynostosis-anal anomalies-porokeratosis syndrome
- Crouzon syndrome
- Crouzon syndrome-acanthosis nigricans syndrome
- Donnai-Barrow syndrome
- Holoprosencephaly-caudal dysgenesis syndrome
- Hypertelorism-hypospadias-polysyndactyly syndrome
- Hypomandibular faciocranial dysostosis
- Isolated exencephaly
- Jackson-Weiss syndrome
- Juvenile nasopharyngeal angiofibroma
- Keppen-Lubinsky syndrome
- Larsen-like osseous dysplasia-short stature syndrome
- Lowry-MacLean syndrome
- Machado-Joseph disease type 1
- Machado-Joseph disease type 2
- Machado-Joseph disease type 3
- Mandibuloacral dysplasia with type A lipodystrophy
- Mandibuloacral dysplasia with type B lipodystrophy
- Marshall syndrome
- Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
- Muenke syndrome
- Neu-Laxova syndrome
- Neurofibromatosis type 1
- Non-syndromic bicoronal craniosynostosis
- Oculoectodermal syndrome
- Orofaciodigital syndrome type 4
- Ossification anomalies-psychomotor developmental delay syndrome
- Osteosclerotic bone dysplasia
- Pediatric-onset Graves disease
- Pfeiffer syndrome type 1
- Pontocerebellar hypoplasia type 10
- Pseudoaminopterin syndrome
- Pycnodysostosis
- Retinoblastoma
- Roberts syndrome
- Schinzel-Giedion 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: Anterior bulging of the globe · Anterior bulging of the globe of eye · Exophthalmos · Eyeballs bulging out · Ocular proptosis · Prominent eyes · Prominent globes · Protruding eyes
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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.