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Dentistry · Tooth development and dental anatomy: ectodermal dysplasia
Sample itemA 5-year-old boy has sparse hair, absent sweating with heat intolerance, and conical teeth with only a few teeth erupted. Radiographs show many missing tooth germs. What is the most likely diagnosis?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Hypohidrotic ectodermal dysplasia
Hypohidrotic ectodermal dysplasia is an X-linked disorder of ectodermal structures. It features sparse hair, reduced sweating, hypodontia or anodontia, and conical teeth.
Option by option
A. Hypohidrotic ectodermal dysplasia (correct)
Correct. Sparse hair, anhidrosis and hypodontia with conical teeth define this condition.
B. Cleidocranial dysplasia
Cleidocranial dysplasia shows clavicle defects and supernumerary teeth, not anhidrosis.
C. Amelogenesis imperfecta
Amelogenesis imperfecta affects enamel only and does not cause hair or sweat gland defects.
D. Down syndrome
Down syndrome can show hypodontia, but not anhidrosis and sparse hair.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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