Rare diseases · Sign or symptom
Hypertelorism
Wide-set eyes
HP:0000316
What it means
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Rare diseases that can present with this512
Very common80–99%
80- 12q14microdeletion syndrome
- 14q11.2microdeletion syndrome
- 14q22q23microdeletion syndrome
- 15q overgrowth syndrome
- 17p13.3microduplication syndrome
- 20p12.3microdeletion syndrome
- 3C syndrome
- 3q13microdeletion syndrome
- 48,XYYY syndrome
- 49,XXXYY syndrome
- 49,XYYYY syndrome
- 6q terminal deletion syndrome
- 7p22.1microduplication syndrome
- Aarskog-Scott syndrome
- Acrocallosal syndrome
- Acrocephalopolydactyly
- Acrofrontofacionasal dysostosis
- Acromelic frontonasal dysplasia
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome
- Aminopterin/methotrexate embryofetopathy
- Aspartylglucosaminuria
- Autosomal dominant Robinow syndrome
- Autosomal recessive cutis laxa type 2, classic type
- Autosomal recessive faciodigitogenital syndrome
- Autosomal recessive Robinow syndrome
- Axial mesodermal dysplasia spectrum
- Baraitser-Winter cerebrofrontofacial syndrome
- Barber-Say syndrome
- Benign Samaritan congenital myopathy
- Brachytelephalangy-dysmorphism-Kallmann syndrome
- Branchioskeletogenital syndrome
- Burn-McKeown syndrome
- Carpenter syndrome
- CEDNIK syndrome
- Cerebrofaciothoracic dysplasia
- Cerebrooculonasal syndrome
- Charlie M syndrome
- Char syndrome
- CHIME syndrome
- CHST3-related skeletal dysplasia
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
- Cleidocranial dysplasia
- Cloverleaf skull-multiple congenital anomalies syndrome
- Coffin-Lowry syndrome
- Crane-Heise syndrome
- Craniofacial-deafness-hand syndrome
- Craniofacial dysostosis-diaphyseal hyperplasia syndrome
- Craniofrontonasal dysplasia
- Craniofrontonasal dysplasia-Poland anomaly syndrome
- Craniolenticulosutural dysplasia
- Craniometaphyseal dysplasia
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- Craniosynostosis, Herrmann-Opitz type
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Curry-Jones syndrome
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- De Barsy syndrome
- Delayed membranous cranial ossification
- Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
- Developmental malformations-deafness-dystonia syndrome
- Distal deletion 17q syndrome
- Distal deletion 1q syndrome
- Distal deletion 3p syndrome
- Distal deletion 6p syndrome
- Distal deletion 9p syndrome
- Donnai-Barrow syndrome
- Dubowitz syndrome
- Duplication of the pituitary gland
- Dysosteosclerosis
- Dysplastic cortical hyperostosis, Al-Gazali type
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
- Facial dysmorphism-shawl scrotum-joint laxity syndrome
- Faciocardiorenal syndrome
- Familial intestinal malrotation
- Familial scaphocephaly syndrome, McGillivray type
- FGFR2-related bent bone dysplasia
- Fibulo-ulnar hypoplasia-renal anomalies syndrome
- Frank-Ter Haar 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: Excessive orbital separation · Increased distance between eye sockets · Increased distance between eyes · Increased interpupillary distance · Ocular hypertelorism · Widely spaced eyes · Widened interpupillary distance
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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.