Trichodermodysplasia-dental alterations syndrome

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Synonyms: Pinheiro-Freire Maia-Miranda syndrome

Trichodermodysplasia-dental alterations syndrome is a rare genetic ectodermal dysplasia syndrome characterized by sparse thin brittle scalp hair as well as sparse eyebrows eyelashes axillary and pubic hair delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis café-au-lait spots on back mild dystrophy of nails and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.

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 July 2024

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