Trigonocephaly-broad thumbs syndrome

MONDO:0018064

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.

Also known as: Hunter-Rudd-Hoffmann syndrome, Hunter Rudd Hoffmann syndrome

1 clinical trial for this condition and its sub-types, 0 tagged with Trigonocephaly-broad thumbs syndrome itself.

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↑ Syndromic craniosynostosis (22)

Including sub-types (1) Tagged with Trigonocephaly-broad thumbs syndrome (0)

Trials to join now! 1

Nano-ink gel could replace repeated skull surgeries for kids with rare genetic disorders

Disease control Recruiting now

This early-stage study aims to develop a personalized treatment for children with syndromic craniosynostosis, a group of rare genetic disorders where skull bones fuse too early. The approach uses a nano-engineered gel to deliver custom genetic medicine directly to the affected ar…

Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS • Aim: Disease control

Last updated Sep 10, 2026 00:00 UTC

Trigonocephaly-broad thumbs syndrome

Where it sits in the disease tree

Nano-ink gel could replace repeated skull surgeries for kids with rare genetic disorders