Odonto-onycho-dermal dysplasia

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Synopsis

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A rare autosomal recessive syndrome with missing or misshapen teeth, dystrophic nails, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. Dry, sparse hair and smooth tongue with marked reduction of fungiform and filiform papillae may be symptoms in some patients. Can be caused by homozygous or compound heterozygous mutation in the WNT10A gene.

For more information, see OMIM.

Codes

ICD10CM:
Q82.4 – Ectodermal dysplasia (anhidrotic)

SNOMEDCT:
403762003 – Odonto-onycho-dermal dysplasia

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