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Start free with EleplanTemple-Baraitser syndrome
ORPHA:420561Disease
Also called Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS
What it is
A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Disease
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
Common30–79%
28- Abnormality of brain morphology
- Absent speech
- Aplastic/hypoplastic toenail
- Bilateral ptosis
- Broad thumb
- Coarse facial features
- Constipation
- Delayed eruption of teeth
- Depressed nasal bridge
- EEG abnormality
- Epicanthus
- Generalized hypotonia
- Hypertelorism
- Intellectual disability, severe
- Long eyelashes
- Long hallux
- Long philtrum
- Macrotia
- Microcephaly
- Myopathic facies
- Seizure
- Severe global developmental delay
- Short stature
- Thick eyebrow
- Thick vermilion border
- Wide mouth
- Wide nasal bridge
- Wide nose
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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