Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome (WNT10A)
Odonto-onycho-dermal dysplasia (OODO) and Schopf-Schulz-Passarge syndrome (SSPS) are autosomal recessive, pan-ethnic disorders caused by pathogenic variants in the gene WNT10A. Both disorders result in abnormalities of the skin, nails, hair and teeth. Clinical features of OODO include thickening of the skin on the palms of the hand and soles of the feet, and misshapen or missing nails and teeth. Some patients may have dry, thin hair and sparse eyebrows, and may have a smooth tongue with missing taste buds. Clinical features of SSPS include missing teeth and cysts at the corners of the eyes, misshapen nails or nails that separate from the nailbed, and an increased risk of basal cell and squamous cell carcinomas. Some patients may exhibit a mild phenotype characterized by one or several missing teeth. It is not possible to predict which phenotype a patient may have based on the genotype; the same genotypes have been found in patients with different clinical presentations. Lifespan has not been reported to be shortened.
For information about carrier frequency and residual risk, please see the residual risk table.