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Odonto-onycho-dermal dysplasia
Other Resources UpToDate PubMed

Odonto-onycho-dermal dysplasia

Contributors: Gloria J. Young BA, Grace J. Young BA, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Odonto-onycho-dermal dysplasia (OODD) is a rare, autosomal recessive form of ectodermal dysplasia characterized by missing or misshapen teeth, onychodysplasia, hyperkeratosis and hyperhidrosis of the palms and soles, dry skin, and sparse and brittle hair. Persistent atrophic, erythematous plaques over the cheeks are a further feature in the majority of affected individuals. The disease results from biallelic mutations in the WNT10A gene, which leads to high phenotypic heterogeneity. Only 15 cases have been documented worldwide, all in consanguineous families.

OODD typically manifests at an early age. Life expectancy ranges from normal to slightly reduced.

For more information, see OMIM.

Codes

ICD10CM:
Q82.4 – Ectodermal dysplasia (anhidrotic)

SNOMEDCT:
403762003 – Odonto-onycho-dermal dysplasia

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Last Reviewed:08/18/2020
Last Updated:09/14/2020
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Odonto-onycho-dermal dysplasia
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Odonto-onycho-dermal dysplasia
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