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Start free with Eleplan49,XXXXY syndrome
ORPHA:96264Malformation syndrome
What it is
The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.
Key facts
- Prevalence
- 1-9 / 1 000 000 (at birth, Europe)
- Age of onset
- Childhood
- 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%
12Common30–79%
29- Abnormality of epiphysis morphology
- Asthma
- Attention deficit hyperactivity disorder
- Autism
- Blepharophimosis
- Chronic otitis media
- Clinodactyly of the 5th finger
- Constipation
- Coxa valga
- Cryptorchidism
- Delayed eruption of teeth
- Down-sloping shoulders
- Elbow dislocation
- Epicanthus
- Gynecomastia
- Hip dislocation
- Hypertelorism
- Joint hypermobility
- Myopia
- Pes planus
- Radioulnar synostosis
- Recurrent respiratory infections
- Renal dysplasia
- Scoliosis
- Seizure
- Small scrotum
- Strabismus
- Taurodontia
- Upslanted palpebral fissure
Sometimes5–29%
23- Abnormal cardiovascular system morphology
- Arrhinencephaly
- Brachycephaly
- Cleft palate
- Depressed nasal bridge
- Depressed nasal ridge
- Gastroesophageal reflux
- Holoprosencephaly
and 15 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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