Ectodermal dysplasias are inherited disorders affecting tissues derived primarily from the ectoderm, including the hair, teeth, nails, sweat glands, and skin. Clinical manifestations may include hypotrichosis, abnormal or missing teeth, nail dystrophy, reduced or absent sweating with heat intolerance, and variable craniofacial, ocular, immune, or other systemic abnormalities.

This panel includes genes associated with the major forms of hypohidrotic and hidrotic ectodermal dysplasia, ectodermal dysplasia with immune deficiency, ectodermal dysplasia with clefting, and other syndromic disorders involving multiple ectodermal structures.

This panel is recommended for patients with abnormalities of the hair, teeth, nails, sweat glands, or skin suggestive of ectodermal dysplasia, particularly when multiple ectodermal structures are affected or additional syndromic features are present.