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Start free with EleplanRubinstein-Taybi syndrome
ORPHA:783Malformation syndrome
Also called Broad thumb-hallux syndrome · Broad thumbs-halluces syndrome
What it is
A rare, genetic malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, and broad thumbs and halluces), short stature, intellectual disability and behavioral characteristics.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal dominant, Unknown
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
17- Brachydactyly
- Broad hallux phalanx
- Broad thumb
- Convex nasal ridge
- Delayed speech and language development
- Downslanted palpebral fissures
- Failure to thrive in infancy
- Feeding difficulties in infancy
- Global developmental delay
- High palate
- Hypertelorism
- Intellectual disability
- Joint hypermobility
- Low-set ears
- Short stature
- Talon cusp
- Telecanthus
Common30–79%
34- Abnormal cardiovascular system morphology
- Abnormal corpus callosum morphology
- Abnormal distal phalanx morphology of finger
- Abnormal heart morphology
- Abnormality of the dentition
- Abnormality of the genitourinary system
- Absent pubertal growth spurt
- Anxiety
- Aplasia/Hypoplasia of the cerebellar vermis
- Attention deficit hyperactivity disorder
- Atypical behavior
- Autistic behavior
- Carious teeth
- Cataract
- Clinodactyly of the 5th finger
- Clubbing of toes
- Coloboma
- Constipation
- Cryptorchidism
- Epicanthus
- Generalized hirsutism
- Glaucoma
- Highly arched eyebrow
- Irritability
- Microcephaly
- Micrognathia
- Nasolacrimal duct obstruction
- Pilomatrixoma
- Recurrent infections
- Respiratory distress
- Respiratory insufficiency
- Sleep apnea
- Strabismus
- Wide nasal bridge
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.
Genes reported in subtypes
Orphanet records these genes on 3 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
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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