Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Synonyms: Ladda-Zonana-Ramer syndrome
A rare ectodermal dyplasia syndrome characterized by severe arthrogryposis multiple ectodermal dysplasia features cleft lip/palate facial dysmorphism growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse brittle and hypopigmented hair xerosis multiple nevi small conical shaped teeth and hypodontia and facial dysmorphism with blepharophimosis deep-set eyes and micrognathia.
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
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Contractures-ectodermal dysplasia-cleft lip/palate syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Clinical Trials
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