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Start free with EleplanWilson-Turner syndrome
ORPHA:3459Malformation syndrome
Also called WTS · X-linked intellectual disability-gynecomastia-obesity syndrome
What it is
Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood
- Inheritance
- X-linked dominant, X-linked 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%
22- Abnormal facial shape
- Broad nasal tip
- Cryptorchidism
- Deeply set eye
- Emotional lability
- Global developmental delay
- Gynecomastia
- Intellectual disability
- Malar prominence
- Micrognathia
- Microtia
- Pes cavus
- Pes planus
- Poor speech
- Prominent supraorbital ridges
- Short foot
- Short stature
- Small hand
- Tapered finger
- Thick eyebrow
- Thin upper lip vermilion
- Truncal obesity
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
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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