Heredity and Genetics

How can someone's facial features indicate a genetic disorder?
Answered by Discovery Channel
  • Discovery Channel

    Discovery Channel

  1. Facial shape and characteristics can often indicate whether a person has a genetic disorder. About 700 of the thousands of known genetic disorders can be identified in unusual facial characteristics [source: Daily Mail]. People with Down syndrome present a familiar example. The unique cranial and facial attributes that their extra chromosome 21 causes are easy to spot as characteristic of Down syndrome.

    The study of unusual physical characteristics to determine whether a person suffers from a genetic disorder is called dysmorphology. Dysmorphology compares what are considered average physical traits with measured deviations from these norms. For instance, if eyes are expected to be horizontal and a doctor notices that a patient's eyes angle further downward than most people's, the doctor has a good starting point to diagnose a potential genetic disorder in his patient. The distance between eyes, chin size and forehead length are other factors that may be considered.

    Because people with certain genetic disorders have unique facial characteristics, having a compilation of all of the variations, and what they mean, would be a useful diagnostic tool. Dr. Peter Hammond spent seven years doing research around the world to collect pictures of people with genetic disorders. He compiled the images into his database, which helps provide accurate diagnoses of children with genetic disorders. The program is 90 percent accurate at helping to diagnose at least 30 different disorders [source: BBC]. A doctor who is trying to ascertain what unfamiliar genetic problem a patient has can take a photo of the patient and enter it into the database. Hammond's program can analyze the picture and match it up with possible disorders to help narrow the field.

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