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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 140936
Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.
So far, only eight cases have been described in the literature.
Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit and hypodontia.
Transmission is autosomal recessive.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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