Trichodermodysplasia-dental alterations syndrome
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 April 2024
Newly diagnosed with
Trichodermodysplasia-dental alterations syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.