ORPHA:96263
48,XXXY syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 48,XXXY syndrome | |
| fr | Syndrome 48,XXXY | |
| de | 48,XXXY-Syndrom | 48, XXXY |
| es | Síndrome 48,XXXY | |
| it | Sindrome 48,XXXY | |
| nl | 48,XXXY-syndroom | |
| pt | Síndrome 48,XXXY | |
| pl | Zespół 48,XXXY | |
| cs | 48,XXXY syndrom | |
| uk | Синдром 48,XXXY | |
| zh | 48,XXXY综合征 | |
| tr | 48, XXXY sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q98.1 | NTBT | attributed | validated |
| MONDO | 0019928 | E | validated | |
| UMLS | C0265498 | E | validated | |
| GARD | 5676 | E | validated | |
| MedDRA | 10048228 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:98313Male infertility due to gonadal dysgenesis
rare genetic diseases; rare infertility disorders - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:325546Sex chromosome difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases - ORPHA:263720X chromosome number anomaly with male phenotype syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | [EXPERT]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
62 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000027 | Azoospermia | |
| HP:0008734 | Decreased testicular size | |
| HP:0001263 | Global developmental delay | |
| HP:0000135 | Hypogonadism | |
| HP:0000789 | Infertility | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002463 | Language impairment | |
| Frequent (79-30%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0002099 | Asthma | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0000670 | Carious teeth | |
| HP:0000389 | Chronic otitis media | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002019 | Constipation | |
| HP:0000028 | Cryptorchidism | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0200021 | Down-sloping shoulders | |
| HP:0003042 | Elbow dislocation | |
| HP:0000286 | Epicanthus | |
| HP:0000771 | Gynecomastia | |
| HP:0000316 | Hypertelorism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001252 | Hypotonia | |
| HP:0001382 | Joint hypermobility | |
| HP:0010807 | Open bite | |
| HP:0001763 | Pes planus | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000046 | Small scrotum | |
| HP:0000486 | Strabismus | |
| HP:0000098 | Tall stature | |
| HP:0000679 | Taurodontia | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0012433 | Abnormal social behavior | |
| HP:0000718 | Aggressive behavior | |
| HP:0000739 | Anxiety | |
| HP:0000581 | Blepharophimosis | |
| HP:0000248 | Brachycephaly | |
| HP:0000175 | Cleft palate | |
| HP:0002673 | Coxa valga | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000324 | Facial asymmetry | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002827 | Hip dislocation | |
| HP:0000023 | Inguinal hernia | |
| HP:0000737 | Irritability | |
| HP:0000303 | Mandibular prognathia | |
| HP:0001513 | Obesity | |
| HP:0002204 | Pulmonary embolism | |
| HP:0000110 | Renal dysplasia | |
| HP:0100753 | Schizophrenia | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001337 | Tremor | |
| HP:0005978 | Type II diabetes mellitus | |
| HP:0004936 | Venous thrombosis | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 17062147[PMID]_21342258[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96263
- This record as JSON: /data/d/96263.json