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Start free with EleplanCharcot-Marie-Tooth disease-deafness-intellectual disability syndrome
ORPHA:90103Malformation syndrome
Also called CMT-deafness-intellectual disability syndrome · Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome · Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers · Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers
What it is
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy
- Inheritance
- Autosomal recessive
- 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%
7Common30–79%
19- Abnormality of peripheral nerve conduction
- Absent Achilles reflex
- Absent speech
- Amyotrophy of ankle musculature
- Areflexia of lower limbs
- Calf muscle hypoplasia
- Distal lower limb amyotrophy
- Distal lower limb muscle weakness
- Distal sensory impairment of all modalities
- Distal upper limb muscle weakness
- Dysarthria
- Failure to thrive in infancy
- Foot dorsiflexor weakness
- Gait ataxia
- Global developmental delay
- Impaired vibration sensation at ankles
- Intrinsic hand muscle atrophy
- Pes cavus
- Upper limb amyotrophy
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.
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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