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Start free with EleplanRubinstein-Taybi syndrome due to CREBBP mutations
ORPHA:353277Etiological subtype
What it is
Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.
Key facts
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Etiological subtype
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (Europe)Rubinstein-Taybi syndrome
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Very common80–99%
16- Abnormal facial shape
- Broad hallux
- Broad thumb
- Delayed speech and language development
- Downslanted palpebral fissures
- Facial grimacing
- Highly arched eyebrow
- High palate
- Hypertelorism
- Intellectual disability
- Low-set ears
- Micrognathia
- Neurodevelopmental delay
- Postnatal growth retardation
- Prominent nasal septum
- Widened distal phalanges
Common30–79%
32- Abnormal cardiovascular system morphology
- Abnormal fear/anxiety-related behavior
- Abnormal heart morphology
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the kidney
- Abnormal proximal phalanx morphology of the hand
- Abnormal repetitive mannerisms
- Agoraphobia
- Atypical behavior
- Brain imaging abnormality
- Broad distal phalanx of finger
- Compulsive behaviors
- Constipation
- Convex nasal ridge
- Cryptorchidism
- Emotional lability
- Failure to thrive
- Feeding difficulties in infancy
- Impulsivity
- Laryngeal cartilage malformation
- Low hanging columella
- Narrow palate
- Obesity
- Obstructive sleep apnea
- Panic attack
- Ptosis
- Recurrent respiratory infections
- Reduced social responsiveness
- Short stature
- Social and occupational deterioration
- Talon cusp
Sometimes5–29%
55- Abnormal corpus callosum morphology
- Abnormality of lateral ventricle
- Abnormality of the cervical spine
- Abnormality of the curvature of the vertebral column
- Abnormality of the posterior cranial fossa
- Abnormality of the urinary system
- Abnormal subclavian artery morphology
- Absent speech
and 47 more in this range
Rare1–4%
19- Aortic valve stenosis
- Asthma
- Bicuspid aortic valve
- Cataract
- Cellular immunodeficiency
- Cervical cord compression
- Coarctation of aorta
- Coloboma
and 11 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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