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Start free with EleplanX-linked intellectual disability, Cilliers type
ORPHA:163971Disease
Also called X-linked intellectual disability-microcephaly-testicular failure syndrome
What it is
A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypergonadotropic hypogonadism associated with small and abnormal testes, microcephaly, small hands and nails, fifth finger clinodactyly, mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, high nasal bridge, large ears), and mild learning difficulties.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- Inheritance
- X-linked 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
Very common80–99%
20- Abnormal facial shape
- Absence of secondary sex characteristics
- Clinodactyly of the 5th finger
- Coronal craniosynostosis
- Cryptorchidism
- Decreased serum testosterone concentration
- Decreased testicular size
- Deeply set eye
- Delayed skeletal maturation
- Failure to thrive
- Hypergonadotropic hypogonadism
- Increased circulating gonadotropin level
- Intellectual disability, mild
- Macrotia
- Male hypogonadism
- Prominent nasal bridge
- Prominent supraorbital ridges
- Short stature
- Small hand
- Small nail
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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