Rubinstein-Taybi syndrome due to CREBBP mutations
Findings
No curated finding names Rubinstein-Taybi syndrome due to CREBBP mutations yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.
Definition from the Mondo Disease Ontology (MONDO:0008393), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Sporadic
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
204 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 1 reported patient
- Bilateral cryptorchidismHPOHP:0008689
- 2 of 2 reported patients
- Broad distal phalanx of fingerHPOHP:0009836
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Broad eyebrowHPOHP:0011229
- 6 of 6 reported patients
- Broad hallux phalanxHPOHP:0010059
- 1 of 1 reported patient
- Capillary hemangiomaHPOHP:0005306
- 1 of 1 reported patient
- Cleft palate
Show the remaining 192
- Downslanted palpebral fissuresHPOHP:0000494
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Facial hypertrichosisHPOHP:0002219
- 4 of 4 reported patients
- Failure to thriveHPOHP:0001508
- 4 of 4 reported patients · Infantile onset
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Frontal hirsutismHPOHP:0011335
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CREBBPHGNC:2348
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
5 names
Resolves to: Rubinstein-Taybi syndrome due to CREBBP mutations
- Also called
- CREBBP Rubinstein-Taybi syndromeRSTS1Rubinstein-Taybi syndrome 1Rubinstein-Taybi syndrome caused by mutation in CREBBPRubinstein-Taybi syndrome type 1