Rubinstein-Taybi syndrome

MONDO:0019188

A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics.

Also known as: Broad thumb-hallux syndrome, Broad thumbs-halluces syndrome, Rubinstein-Taybi Syndrome, RSTS

4 clinical trials for this condition and its sub-types, 3 tagged with Rubinstein-Taybi syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Congenital nervous system disorder (287) ↑ Mendelian neurodevelopmental disorder (208) ↑ Dysostosis (85) ↑ Congenital limb malformation (61) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Syndromic intellectual disability (38)

Sub-types of Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome due to CREBBP mutations 0 trials
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 trials
Chromosome 16p13.3 deletion syndrome 0 trials
1 sub-type
- Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 0 trials

Including sub-types (4) Tagged with Rubinstein-Taybi syndrome (3)

Trials to join now! 2 Completed 1

Can a common drug boost brain function in kids with rare genetic disorder?

Disease control Completed

This phase 2 trial tested sodium valproate, a drug used for seizures, in 41 children with Rubinstein-Taybi syndrome (RTS), a rare genetic condition causing intellectual disability. Participants aged 6 to 21 received either the drug or a placebo for one year. Researchers measured …

Phase 2 • Sponsor: University Hospital, Bordeaux • Aim: Disease control

Last updated Jun 27, 2026 12:32 UTC

Rubinstein-Taybi syndrome

Where it sits in the disease tree

Can a common drug boost brain function in kids with rare genetic disorder?