Triphalangeal thumbs-brachyectrodactyly syndrome

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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 June 2024

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Triphalangeal thumbs-brachyectrodactyly syndrome?

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