Dysmorphic feature

Dysmorphic feature is a term used in the field of medical genetics to refer to unusual physical characteristics that may indicate a genetic disorder. These features can vary greatly in severity and can affect any part of the body. Dysmorphic features can include abnormalities in the size, shape, or position of body parts. They can also include differences in the way body parts function.

Definition

A dysmorphic feature is a physical attribute that is formed or shaped in a way that is not typical. This can include features that are too large, too small, in the wrong place, or shaped in an unusual way. Dysmorphic features can be present at birth or develop later in life. They can affect any part of the body, including the face, limbs, organs, or skeleton.

Causes

Dysmorphic features are often caused by genetic disorders. These disorders can be inherited from parents or can occur spontaneously due to mutations in the DNA. Some common genetic disorders that can cause dysmorphic features include Down syndrome, Turner syndrome, and Marfan syndrome.

Diagnosis

The diagnosis of dysmorphic features often involves a physical examination and a review of the patient's medical and family history. In some cases, genetic testing may be used to confirm a diagnosis or to identify the specific genetic disorder causing the dysmorphic features.

Treatment

The treatment for dysmorphic features depends on the underlying cause. In some cases, surgery or other medical interventions may be used to correct or manage the dysmorphic features. In other cases, treatment may focus on managing the symptoms and complications associated with the genetic disorder.

See also

• Genetic disorder
• Mutation
• Physical examination
• Genetic testing

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