Epicanthal Folds: Causes, Symptoms, Diagnosis, Treatment, and Prevention
An epicanthal fold is a fold of skin that runs from the upper eyelid to the inner corner of the eye. Some individuals cover this inner corner completely. Especially for Asians and infants, this is completely normal. The symptoms may, however, be a sign of underlying medical conditions in some cases.
Causes of Epicanthal Folds
In general, epicanthal folds are caused by genetics. Approximately 50% of Asian people, particularly those from China, Korea, Mongolia, and Japan, have them. Despite not fully understanding why Asian people developed epicanthal folds, there is a theory that they helped them adapt to cold, windy climates.
Epicanthal folds are also seen in non-Asian babies and young children before the bridge of their noses develops. They usually disappear as the child grows older.
Epicanthal folds can also be caused by certain medical conditions that affect the facial features or the chromosomes. These include:
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Down syndrome: This is a genetic disorder in which a person is born with an extra chromosome 21. It causes distinctive physical traits and developmental delays.
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It causes short stature and developmental delays. People with Turner syndrome are born with a missing X chromosome.
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If left untreated, phenylketonuria (PKU) can lead to brain damage and intellectual disability. Phenylalanine is an amino acid found in protein-rich foods.
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Fetal alcohol syndrome: This is a condition that can occur when a birthing parent drinks alcohol during pregnancy. It can cause physical, behavioral, and learning problems in the child.
Symptoms of Epicanthal Folds
Epicanthal folds are not a symptom by themselves, but they may be associated with other symptoms depending on the cause. For example, people with Down syndrome may have:
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Flat facial features
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Small head and ears
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Short neck
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Slanted eyes
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Poor muscle tone
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Heart defects
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Hearing and vision problems
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Thyroid problems
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Leukemia
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Alzheimer’s disease
People with Turner syndrome may have:
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Short stature
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Webbed neck
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Low-set ears
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Broad chest
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Swollen hands and feet
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Heart defects
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Kidney problems
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Infertility
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Osteoporosis
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Diabetes
People with PKU may have:
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Light skin, hair, and eyes
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Musty odor in breath, skin, or urine
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Seizures
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Tremors
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Hyperactivity
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Behavioral problems
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Learning difficulties
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Skin rashes
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Eczema
People with fetal alcohol syndrome may have:
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Low birth weight
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Small head size
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Abnormal facial features
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Heart defects
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Vision and hearing problems
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Poor coordination
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Delayed development
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Learning disabilities
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Memory problems
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Attention deficit hyperactivity disorder (ADHD)
Diagnosis of Epicanthal Folds
An exam of the eyes and the face can be used to diagnose epicanthal folds. It may also be necessary for the doctor to inquire about the patient's family history and medical history. The doctor may order some tests to confirm the diagnosis if epicanthal folds are believed to be caused by a genetic or metabolic condition.
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Blood tests: These can check for the levels of certain hormones, enzymes, or chromosomes in the blood.
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Urine tests: These can check for the presence of certain substances or metabolites in the urine.
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Genetic tests: These can analyze the DNA of the person to look for any mutations or abnormalities in the genes or chromosomes.
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Ultrasound: This can create images of the internal organs, such as the heart and the kidneys, to look for any defects or malformations.
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Echocardiogram: This can measure the function and structure of the heart using sound waves.
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Electrocardiogram (ECG): This can record the electrical activity of the heart to detect any irregularities or problems.
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Eye tests: These can check for the vision and the health of the eyes.
Treatment of Epicanthal Folds
When epicanthal folds are not caused by a medical condition, they do not require any treatment. They are a normal variation of eye shape and do not affect the vision or health of the individual. It is not a medical necessity for people to undergo cosmetic surgery in order to remove or reduce epicanthal folds.
If epicanthal folds are caused by a medical condition, the treatment will depend on the specific condition and its severity. The treatment may include:
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Medication: This can help manage the symptoms or complications of the condition, such as seizures, infections, or thyroid problems.
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Diet: This can help control the intake of certain nutrients or substances that may affect the condition, such as phenylalanine for PKU or alcohol for fetal alcohol syndrome.
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Supplements: This can help provide the essential vitamins or minerals that may be lacking or deficient in the condition, such as folic acid for fetal alcohol syndrome or estrogen for Turner syndrome.
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Surgery: This can help correct or improve the function or appearance of the affected organs or structures, such as the heart, the kidneys, or the eyelids.
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Therapy: This can help support the development and the learning of the person, such as physical therapy, occupational therapy, speech therapy, or behavioral therapy.
Prevention of Epicanthal Folds
If epicanthal folds are determined by genetics, they cannot be prevented. However, certain lifestyle changes can reduce the risk. These include:
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Avoiding alcohol during pregnancy: This can prevent fetal alcohol syndrome and its associated problems.
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Getting prenatal screening and testing: This can help detect any genetic or chromosomal abnormalities in the fetus and allow for early intervention or counseling.
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Following a healthy diet and exercise: This can help maintain a healthy weight and prevent obesity, diabetes, or other metabolic disorders that may affect the facial features or the chromosomes.
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Taking folic acid supplements before and during pregnancy: This can help prevent neural tube defects and other birth defects that may affect the facial features or the chromosomes.
