Triphalangeal thumbs-brachyectrodactyly syndrome
Synonyms: Carnevale-Hernández-del Castillo syndrome
A rare genetic syndrome with limb duplication polydactyly syndactyly and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs phalangeal duplication of other digits and polydactyly associated with highly variable combinations of ectrodactyly brachydactyly and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also 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 September 2023.
Newly diagnosed with
Triphalangeal thumbs-brachyectrodactyly 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
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.