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Start free with EleplanSatoyoshi syndrome
ORPHA:3130Disease
Also called Komuragaeri disease
What it is
Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent, Adult, Childhood
- Inheritance
- Not applicable
- 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
Very common80–99%
24- Abnormal humerus morphology
- Abnormality of epiphysis morphology
- Abnormality of femur morphology
- Abnormality of the hair
- Abnormality of the hip bone
- Abnormality of the knee
- Abnormality of the ovary
- Abnormality of the skeletal system
- Abnormality of the uterus
- Abnormality of the wrist
- Abnormal joint morphology
- Abnormal metaphysis morphology
- Alopecia universalis
- Amenorrhea
- Genu varum
- Hyperlordosis
- Hypoplasia of the ovary
- Hypoplasia of the uterus
- Intermittent painful muscle spasms
- Microcephaly
- Nephrogenic diabetes insipidus
- Short stature
- Sparse or absent eyelashes
- Tapered finger
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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