Ectodermal dysplasia — what is one of the major distinguishing features?

Correct answer: A. Hepatomegaly

• A. Correct. Heat intolerance is a hallmark of ectodermal dysplasia. Absent/reduced eccrine sweat glands prevent effective thermoregulation, causing potentially life-threatening hyperthermia, especially in infants.
• B. Incorrect. Facial clefts are associated with Van der Woude syndrome and Pierre Robin.
• C. Incorrect. Microcephaly is associated with various chromosomal/teratogenic conditions.
• D. Incorrect. Hepatomegaly has no association with ectodermal dysplasia.

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