Rare diseases · Sign or symptom
Deeply set eye
Deep set eye
HP:0000490
What it means
An eye that is more deeply recessed into the plane of the face than is typical.
This finding should be distinguished from a prominent supraorbital ridge or inferior orbital margin. In Deeply set eyes, the globe is recessed in comparison to the overall prominence of the face. There is no known objective measurement, and diagnosing this feature depends heavily on the experience of the observer.
Rare diseases that can present with this136
Very common80–99%
36- 10q22.3q23.3microduplication syndrome
- 1p36deletion syndrome
- Alazami syndrome
- Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- Bangstad syndrome
- Cockayne syndrome type 1
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- De Barsy syndrome
- Difference of sex development-intellectual disability syndrome
- Distal Xq28 microduplication syndrome
- Encephalopathy due to sulfite oxidase deficiency
- Frank-Ter Haar syndrome
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- Intellectual disability-balding-patella luxation-acromicria syndrome
- Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
- Isolated megalencephaly
- Norrie disease
- Paternal 20q13.2q13.3 microdeletion syndrome
- Perlman syndrome
- Pitt-Hopkins syndrome
- Proximal 16p11.2 microduplication syndrome
- Sanjad-Sakati syndrome
- Short stature-brachydactyly-obesity-global developmental delay syndrome
- SHORT syndrome
- Silent sinus syndrome
- Smith-Magenis syndrome
- SSR4-CDG
- STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
- Stormorken-Sjaastad-Langslet syndrome
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
- Trisomy 9p syndrome
- Wiedemann-Rautenstrauch syndrome
- Wilson-Turner syndrome
- X-linked intellectual disability, Cilliers type
- X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
- Xq27.3q28duplication syndrome
Common30–79%
43- 14q11.2microdeletion syndrome
- 16p11.2p12.2microdeletion syndrome
- 17q24.2microdeletion syndrome
- 1p21.3microdeletion syndrome
- 1q21.1microdeletion syndrome
- 1q41q42microdeletion syndrome
- 2q37microdeletion syndrome
- 6p22microdeletion syndrome
- 7q11.23microduplication syndrome
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- Barth syndrome
- Borjeson-Forssman-Lehmann syndrome
- CDKL5-deficiency disorder
- Chondrodysplasia-difference of sex development syndrome
- Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
- Cockayne syndrome
- Combined immunodeficiency with facio-oculo-skeletal anomalies
- Deafness-craniofacial syndrome
- Distal 22q11.2 microdeletion syndrome
- Duane retraction syndrome
- Emanuel syndrome
- Freeman-Sheldon syndrome
- Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
- Hereditary sensory and autonomic neuropathy type 5
- Hydrolethalus
- Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
- Macrocephaly-spastic paraplegia-dysmorphism syndrome
- Mosaic trisomy 8 syndrome
- Mowat-Wilson syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- MYT1L-related developmental delay-intellectual disability-obesity syndrome
- Neonatal Marfan syndrome
- Non-progressive cerebellar ataxia with intellectual disability
- Oculocerebrorenal syndrome of Lowe
- Pelviscapular dysplasia
- Phelan-McDermid syndrome
- Pierpont syndrome
- RHYNS syndrome
- SATB2-associated syndrome due to a pathogenic variant
- Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
- Spastic paraplegia-severe developmental delay-epilepsy syndrome
- Tetrasomy 9p 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: Deep-set eyes · Enophthalmos · Ocular depression · Sunken eye · Sunken 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.