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Start free with Eleplan48,XXXY syndrome
ORPHA:96263Malformation syndrome
What it is
The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Not applicable, Unknown
- 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%
29- Abnormality of dental enamel
- Abnormality of epiphysis morphology
- Asthma
- Attention deficit hyperactivity disorder
- Autism
- Carious teeth
- Chronic otitis media
- Clinodactyly of the 5th finger
- Constipation
- Cryptorchidism
- Delayed eruption of teeth
- Depressed nasal ridge
- Down-sloping shoulders
- Elbow dislocation
- Epicanthus
- Gynecomastia
- Hypertelorism
- Hypoplasia of penis
- Hypotonia
- Joint hypermobility
- Open bite
- Pes planus
- Radioulnar synostosis
- Recurrent respiratory infections
- Small scrotum
- Strabismus
- Tall stature
- Taurodontia
- Upslanted palpebral fissure
Sometimes5–29%
26- Abnormal cardiovascular system morphology
- Abnormal social behavior
- Aggressive behavior
- Anxiety
- Blepharophimosis
- Brachycephaly
- Cleft palate
- Coxa valga
and 18 more in this range
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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