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Skip Navigation Links > Competency 2: Identification of FASD and Diagnosis of FAS > 5a. Facial Anomalies

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Competency 2: Identification of FASD and Diagnosis of FAS

FAS Diagnostic Criteria, Continued

Diagnostic References: Facial Anomalies

The facial anomalies that must be identified to confirm an FAS diagnosis, according to the CDC2, are:

  • Short palpebral fissures (eye openings) (at or below 10th percentile )
  • Smooth philtrum (University of Washington Lip-Philtrum Guide rank 4 or 5)
  • Thin vermillion border (top lip) (University of Washington Lip-Philtrum Guide rank 4 or 5)

Additional features that may be seen include epicanthal folds (skin of the upper eyelid that covers the inner corner of the eye), low nasal bridge, and short nose. In diagnosing FAS, it is important to consider racial and ethnic background. Some features, such as epicanthal folds, may be seen in certain ethnic groups, such as Asians.

The Lip-Philtrum Guide was developed by the Washington State FAS Diagnostic & Prevention Network to guide medical professionals in diagnosing FAS. Because of racial and ethnic differences, two guides were developed. One is for Caucasians and one is for African-Americans. The Guide that best matches the phenotypic profile of the patient's race should be used. The doctor uses the appropriate guide to rank the smoothness of the philtrum and the thinness of the upper lip.

Palpebral fissure length, philtrum, and upper lip differ with race and age. Facial anthropometric data are needed for the specific population, as sensitivity and specificity of the assessment will be lowered without the use of appropriate norms. It is also important to consider family traits. For example, some families might have thin upper lips. In addition, a thin upper lip in one racial group might be medium in another.

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