Triphalangeal thumbs-brachyectrodactyly syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 Data version June 2024

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.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.