Trigonocephaly-broad thumbs syndrome

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Trigonocephaly-broad thumbs syndrome

Synonyms: Hunter-Rudd-Hoffmann syndrome

Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis shallow orbits unusual nose deviation of the terminal phalanges of fingers 1 2 and 5 and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.

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: // Data version October 2023.

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