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WNT10A-pEDD

Previously: Schopf-Schulz-Passarge syndrome (SSPS)

pEDD Gene: WNT10A AR

Onset: Childhood

Pathway: Signalling molecules

Category Paper: pEDD Paper

Key Clinical Clues

Periocular lesions, apocrine hidrocystomas; hypodontia; mild, diffuse PPK.

Additional Cutaneous Features

Periocular lesions, apocrine hidrocystomas, mild, diffuse PPK with erythema, may only have PPK

Additional Extracutaneous Features

Hypodontia

References

Adaimy L, Chouery E, Megarbane H et al. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Genet 2007; 81:821-8.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer