• Facial dysmorphism can be caused by malformations or deformations.

  • Evaluation should include

    • A detailed pregnancy and family history.

    • A detailed physical examination.

    • Laboratory studies based on suspected etiology, history, and physical examination. A genetic consultation may be requested to select proper studies to be ordered.

  • The most important task initially is to determine whether features are

    • Consistent with the individual’s genetic background

    • An abnormal phenotype

  • Health care professionals should be sensitive about the terminology used to describe the patient and should describe the abnormal features as clearly and concisely as possible.

  • Once an abnormal phenotype is suspected, a decision has to be made whether the patient or family will benefit from a referral.

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