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What Is a Dysmorphic Face?

By Jillian O Keeffe
Updated May 17, 2024
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Only medical professionals typically use the term "dysmorphic face," which means that one or more aspects of a person's face are abnormal in some way. This may point to an underlying medical condition, or it can be entirely harmless. Examples of conditions where those affected have a dysmorphic face include cleft palate and Treacher Collins Syndrome.

Between individuals, facial features can vary, but most people have a face that falls into the generally accepted ranges of normality. When someone has a feature that appears abnormal, compared to the normal range, then that person may have a medical condition. Two or more abnormal features constitutes a diagnosis of "dysmorphic face" by a medical professional. This indicates that the person with the unusual features may have had problems developing in the womb.

A diagnosis of "dysmorphic face" does not refer to a specific medical condition. Rather, the term only describes the presence of abnormalities that may be a symptom of a condition. The word dysmorphic stems from the Greek words for "bad" and "shape," and may be used to refer to other features of the body, apart from the face, that have an abnormally developed form.

The majority of conditions that cause a dysmorphic face stem from development problems when the affected person was in the womb. It is during pregnancy that a child changes from an egg and a sperm to a collection of cells and then into an organized system of cells. A disruption of this process, from causes such as abnormal genes, environmental chemicals or even alcohol can affect the organization of cells into a functional and normal-looking child, including the face.

Cleft palate and cleft lip are the most common conditions that affect kids facial features to the extent that the child has a dysmorphic face. When in the womb, the baby's jaw, lips and the roof of the mouth normally develop in the second month of pregnancy, and if problems occur, then the baby could be born with a hole in the roof of the mouth, and a gap in the top lip.

Other possible conditions that a child may be born with include various genetic syndromes, such as Treacher Collins Syndrome. People with this medical problem have facial bones that do not grow properly, and so the features that the bone normally support,such as the nose, cheekbones and chin, are oddly shaped. Goldenhar Syndrome is another genetic disease, and affected kids have faces that have lopsided development, with features on one side smaller than the other.

Although dysmorphic faces do not necessarily require alteration for functional purposes, some people with abnormal features or parents of kids with facial problems choose cosmetic surgery to make the features fall more into the normal range. Some people, however, choose to retain their natural features. If a baby has dysmorphic features, though, a doctor will usually investigate further to check if the unusual features are a sign of more serious underlying problems such as mental handicap or skeletal abnormalities.

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