Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

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Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Synonyms: Ectodermal dysplasia-short stature syndrome | Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature nail dystrophy and/or nail loss oral mucosa and/or tongue hyperpigmentation dentition abnormalities (delayed teeth eruption hypodontia enamel hypoplasia) keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally dysphagia with esophageal strictures sensorineural deafness bronchial asthma and severe iron-deficiency anemia have been observed.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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