A dysmorphic feature is a difference of body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome, or birth defect. Dysmorphic features are invariably present from birth, although some are not immediately apparent upon visual inspection. They can be divided into groups based on their origin, including malformations (abnormal development), disruptions (damage to previously normal tissue), deformations (damage caused by an outside physical force), and dysplasias (abnormal growth or organization within a tissue).
Genetic testing available through the Northwell Health Genomics Alliance can assist practitioners with diagnosing dysmorphic disorders. Commonly order tests are listed below:
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