ORPHA:10
48,XXYY syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 48,XXYY syndrome | |
| fr | Syndrome 48,XXYY | |
| de | 48,XXYY-Syndrom | |
| es | Síndrome 48,XXYY | |
| it | Sindrome 48,XXYY | |
| nl | 48,XXYY-syndroom | 48,XXYY |
| pt | Síndrome 48,XXYY | |
| pl | Zespół 48,XXYY | |
| cs | Syndrom 48,XXYY | |
| uk | 48,XXYY синдром | |
| zh | 48，XXYY综合征 | |
| tr | 48, XXYY sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q98.8 | NTBT | attributed | validated |
| ICD-11 | LD50.3Y | NTBT | index | validated |
| MONDO | 0015028 | E | validated | |
| MeSH | D007713 | E | validated | |
| UMLS | C2936741 | E | validated | |
| GARD | 5677 | E | validated | |
| MedDRA | 10048230 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - 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:263749X and Y chromosomal anomaly 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 | 1.9 / 100 000 | Europe | Value and class | Validated | [EXPERT]_568179[PMID]_14477077[PMID]_2090319[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 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
61 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000027 | Azoospermia | |
| HP:0008734 | Decreased testicular size | |
| HP:0001263 | Global developmental delay | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000789 | Infertility | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0003043 | Abnormality of the shoulder | |
| HP:0000739 | Anxiety | |
| HP:0002099 | Asthma | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000581 | Blepharophimosis | |
| HP:0000670 | Carious teeth | |
| HP:0000389 | Chronic otitis media | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002019 | Constipation | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000716 | Depression | |
| HP:0003042 | Elbow dislocation | |
| HP:0000286 | Epicanthus | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0005469 | Flat occiput | |
| HP:0000771 | Gynecomastia | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0001382 | Joint hypermobility | |
| HP:0001513 | Obesity | |
| HP:0010807 | Open bite | |
| HP:0001763 | Pes planus | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000486 | Strabismus | |
| HP:0000098 | Tall stature | |
| HP:0000679 | Taurodontia | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0001337 | Tremor | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0002104 | Apnea | |
| HP:0001251 | Ataxia | |
| HP:0000717 | Autism | |
| HP:0012802 | Broad jaw | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0001260 | Dysarthria | |
| HP:0000324 | Facial asymmetry | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001385 | Hip dysplasia | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000023 | Inguinal hernia | |
| HP:0000276 | Long face | |
| HP:0002665 | Lymphoma | |
| HP:0000639 | Nystagmus | |
| HP:0000709 | Psychosis | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0001883 | Talipes | |
| HP:0005978 | Type II diabetes mellitus | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/10
- This record as JSON: /data/d/10.json