Deeply set eye

An eye that is more deeply recessed into the plane of the face than is typical.

Also called: Deep set eye, Deep-set eyes, Deeply set eye, Enophthalmos, Ocular depression, Sunken eye, Sunken eyes.

Not sure what deeply set eye might be related to? See the lab tests that healthcare providers may use to investigate deeply set eye, and the conditions they help explore.
Explore relevant lab tests
Associations

Conditions associated with deeply set eye

The following conditions have been associated with deeply set eye in medical literature. This is informational and not a diagnosis.

17q11 microdeletion syndrome

17q11 microdeletion syndrome is a medical condition that may be associated with various symptoms and signs....

General

1p36 deletion syndrome

1p36 deletion syndrome is a medical condition that may be associated with various symptoms and signs....

General

Alström syndrome

Alström syndrome is a medical condition that may be associated with various symptoms and signs....

General

Arboleda-Tham syndrome

Arboleda-Tham syndrome is a medical condition that may be associated with various symptoms and signs....

General

CDKL5-deficiency disorder

CDKL5-deficiency disorder is a medical condition that may be associated with various symptoms and signs....

General

Cholera

Cholera is a medical condition that may be associated with various symptoms and signs....

General

Christianson syndrome

Christianson syndrome is a medical condition that may be associated with various symptoms and signs....

General

Cockayne syndrome

Cockayne syndrome is a medical condition that may be associated with various symptoms and signs....

General

Cockayne syndrome type 1

Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8....

General

Cockayne syndrome type 1

Cockayne syndrome type 1 is a medical condition that may be associated with various symptoms and signs....

General

Cockayne syndrome type 2

Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6....

General

Cockayne syndrome type 3

Cockayne syndrome type 3 is a medical condition that may be associated with various symptoms and signs....

General

Coffin-Siris syndrome 12

Coffin-Siris syndrome 12 is a medical condition that may be associated with various symptoms and signs....

General

D-glyceric aciduria

A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Cl...

General

DYRK1A-related intellectual disability syndrome

DYRK1A-related intellectual disability syndrome is a medical condition that may be associated with various sym...

General

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion is a medical condition that...

General

Distal Xq28 microduplication syndrome

Distal Xq28 microduplication syndrome is a medical condition that may be associated with various symptoms and ...

General

Dursun-Ozgul neurodevelopmental syndrome

Dursun-Ozgul neurodevelopmental syndrome is a medical condition that may be associated with various symptoms a...

General

Emanuel syndrome

Emanuel syndrome is a medical condition that may be associated with various symptoms and signs....

General

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation is a medica...

General

Guillouet-Gordon syndrome

Guillouet-Gordon syndrome is a medical condition that may be associated with various symptoms and signs....

General

Houge-Janssens syndrome 4

Houge-Janssens syndrome 4 is a medical condition that may be associated with various symptoms and signs....

General

ICHAD syndrome

ICHAD syndrome is a medical condition that may be associated with various symptoms and signs....

General

Intellectual disability syndrome due to a DYRK1A point mutation

Intellectual disability syndrome due to a DYRK1A point mutation is a medical condition that may be associated ...

General

Karayol-Borroto-Haghshenas neurodevelopmental syndrome

Karayol-Borroto-Haghshenas neurodevelopmental syndrome is a medical condition that may be associated with vari...

General

Localized scleroderma

Localized scleroderma is a medical condition that may be associated with various symptoms and signs....

General

Mowat-Wilson syndrome

Mowat-Wilson syndrome is a medical condition that may be associated with various symptoms and signs....

General

Mowat-Wilson syndrome due to a ZEB2 point mutation

Mowat-Wilson syndrome due to a ZEB2 point mutation is a medical condition that may be associated with various ...

General

Mowat-Wilson syndrome due to monosomy 2q22

Mowat-Wilson syndrome due to monosomy 2q22 is a medical condition that may be associated with various symptoms...

General

Norrie disease

Norrie disease is a medical condition that may be associated with various symptoms and signs....

General

Oculocerebrorenal syndrome of Lowe

Oculocerebrorenal syndrome of Lowe is a medical condition that may be associated with various symptoms and sig...

General

Ogden syndrome

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal...

General

Pan-Chung-Bellen syndrome

Pan-Chung-Bellen syndrome is a medical condition that may be associated with various symptoms and signs....

General

Phelan-McDermid syndrome

A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, no...

General

Phelan-McDermid syndrome

Phelan-McDermid syndrome is a medical condition that may be associated with various symptoms and signs....

General

RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity

A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characte...

General

Radio-Tartaglia syndrome

A syndrome that is caused by a variation in the SPEN gene and is characterized by developmental delay/intellec...

General

Rajab interstitial lung disease with brain calcifications 1

Rajab interstitial lung disease with brain calcifications 1 is a medical condition that may be associated with...

General

ReNU syndrome

ReNU syndrome is a medical condition that may be associated with various symptoms and signs....

General

Rubinstein-Taybi syndrome 1

Rubinstein-Taybi syndrome 1 is a medical condition that may be associated with various symptoms and signs....

General

Tests

Tests providers may use to investigate deeply set eye

When investigating deeply set eye, a healthcare provider may order one or more of the following laboratory tests. Test selection is a clinical decision made by a qualified professional.

CBC with Differential

Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...

Sample: Blood

Comprehensive Metabolic Panel (CMP)

Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...

Sample: Blood

Ferritin

Measures iron stores in the body....

Sample: Blood

Folate

Measures folate levels to help evaluate anemia and pregnancy health....

Sample: Blood

Iron Panel

Measures iron, TIBC, transferrin saturation, and ferritin....

Sample: Blood

Urinalysis

Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....

Sample: Urine

Vitamin B12

Detects B12 deficiency which can cause anemia and neurological symptoms....

Sample: Blood

Related

Symptoms commonly seen alongside deeply set eye

When to seek care

Seek care from a qualified healthcare provider if deeply set eye is severe, persistent, worsening, or accompanied by concerning symptoms. If you think you have a medical emergency, call your local emergency number immediately.

FAQ

Frequently Asked Questions

What does the symptom deeply set eye mean?

Deeply set eye is a health sign or symptom described in medical literature. An eye that is more deeply recessed into the plane of the face than is typical.

Which conditions are associated with deeply set eye?

Deeply set eye has been reported in association with 82 conditions in the medical literature we index, including 17q11 microdeletion syndrome, 1p36 deletion syndrome, Alström syndrome, Arboleda-Tham syndrome, CDKL5-deficiency disorder. These associations do not mean you have any of these conditions.

Should I see a doctor about deeply set eye?

You should discuss any persistent or concerning symptoms with a qualified healthcare provider. This website does not provide diagnosis. If you have severe symptoms or signs of a medical emergency, seek care immediately.

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