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.
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Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome?
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National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
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