USMLE (United States Medical Licensing Examination) Step 1 Practice Exam

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What presentation is characteristic of Hand-Foot-Genital Syndrome?

  1. Lung involvement

  2. Neurological deficits

  3. Urogenital malformations

  4. Skin rash

The correct answer is: Urogenital malformations

Hand-Foot-Genital Syndrome (HFGS) is a rare genetic disorder that is characterized by limb malformations involving the hands and feet, as well as urogenital abnormalities. The presentation of urogenital malformations is considered to be the typical and characteristic feature of HFGS. This includes abnormalities in the development of the genitalia and urinary tract. Therefore, the correct answer is urogenital malformations (Option C). While some genetic syndromes may present with lung involvement, neurological deficits, or skin rashes, these features are not characteristic of Hand-Foot-Genital Syndrome. In the case of HFGS, the focus is on limb malformations and urogenital abnormalities.

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