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Start free with EleplanCerebrotendinous xanthomatosis
ORPHA:909Disease
Also called CTX · Sterol 27-hydroxylase deficiency
What it is
Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis characterized by neonatal cholestasis, childhood-onset cataract, adolescent to young adult-onset tendon xanthomata, and brain xanthomata with adult-onset neurologic dysfunction.
Key facts
- Prevalence
- 1-9 / 100 000 (Specific population)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- 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%
41- Abnormal auditory evoked potentials
- Abnormal cerebellum morphology
- Abnormal globus pallidus morphology
- Abnormality of extrapyramidal motor function
- Abnormality of finger
- Abnormality of somatosensory evoked potentials
- Abnormality of the Achilles tendon
- Abnormality of the cerebellar peduncle
- Abnormality of the plantar skin of foot
- Abnormality of tibia morphology
- Abnormality of visual evoked potentials
- Abnormal motor evoked potentials
- Abnormal pyramidal sign
- Abnormal retinal vascular morphology
- Ataxia
- Atypical behavior
- Babinski sign
- Chronic diarrhea
- Cognitive impairment
- Decreased nerve conduction velocity
- Distal amyotrophy
- Dysarthria
- Dystonia
- Gait disturbance
- Hyperintensity of cerebral white matter on MRI
- Hyperreflexia
- Intellectual disability
- Neurodevelopmental delay
- Nystagmus
- Optic disc pallor
- Optic neuropathy
- Orofacial dyskinesia
- Osteoporosis
- Paraparesis
- Peripheral neuropathy
- Pes cavus
- Progressive psychomotor deterioration
- Seizure
- Spasticity
- Specific learning disability
- Tendon xanthomatosis
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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