47,XYY syndrome
Synonyms: Double Y syndrome · Jacobs syndrome · XYY syndrome · Y disomy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare sex chromosome aneuploidy where males receive an additional Y chromosome, that is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 47,XYY syndrome | Double Y syndrome · Jacobs syndrome · XYY syndrome · Y disomy |
| fr | Syndrome 47,XYY | Disomie Y · Double Y · Syndrome de Jacobs |
| de | 47,XYY-Syndrom | Disomie Y · Jacobs-Syndrom · XYY-Syndrom · Y-Chromosom, doppeltes |
| es | Síndrome 47,XYY | Disomía Y · Síndrome XYY · Síndrome de Jacobs · Síndrome de doble Y |
| it | Sindrome 47,XYY | Disomia del cromosoma Y · Sindrome XYY · Sindrome di Jacobs · Sindrome doppio Y |
| nl | 47,XYY-syndroom | Dubbele-Y-syndroom · Syndroom van Jacobs · XYY-syndroom · Y-disomie |
| pt | Síndrome 47,XYY | Dissomia Y · Síndrome Jacobs · Síndrome XYY · Síndrome de duplo Y |
| pl | Zespół 47,XYY | Podwójny Y · Disomia Y |
| cs | Syndrom 47,XYY | Dizomie Y · Dvojité Y |
| uk | 47,XYY синдром | Синдром подвійного Y · Синдром Джейкобса · Синдром XYY · Y дисомія |
| zh | 47，XYY综合征 | 重复Y综合征 |
| tr | 47,XYY sendromu | Y disomi · XYY sendromu · Çift Y sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q98.5 | E | specific | validated |
| ICD-11 | LD52.1 | NTBT | attributed | validated |
| MONDO | 0019339 | E | validated | |
| MeSH | C535317 | E | validated | |
| UMLS | C3266843 | E | validated | |
| GARD | 5674 | E | validated | |
| MedDRA | 10056894 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:263746Y chromosome number anomaly syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Denmark | Class only | Not yet validated | 20509956[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 50 / 100 000 | Europe | Value and class | Not yet validated | 22893477[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 14.1 / 100 000 | Denmark | Value and class | Validated | 20509956[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Not yet validated | 22893477[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
45 annotations · validated 2024-02-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0000369 | Low-set ears | |
| HP:0000272 | Malar flattening | |
| HP:0001270 | Motor delay | |
| HP:0000098 | Tall stature | |
| Frequent (79-30%) | ||
| HP:0002099 | Asthma | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0007642 | Congenital stationary night blindness | |
| HP:0000805 | Enuresis | |
| HP:0040019 | Finger clinodactyly | |
| HP:0000752 | Hyperactivity | |
| HP:0000316 | Hypertelorism | |
| HP:0100710 | Impulsivity | |
| HP:0001249 | Intellectual disability | |
| HP:0000256 | Macrocephaly | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001763 | Pes planus | |
| HP:0012760 | Reduced social responsiveness | |
| HP:0001328 | Specific learning disability | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0100851 | Abnormal emotion/affect behavior | |
| HP:0000739 | Anxiety | |
| HP:0000729 | Autistic behavior | |
| HP:0000027 | Azoospermia | |
| HP:0007033 | Cerebellar dysplasia | |
| HP:0000028 | Cryptorchidism | |
| HP:0002195 | Dysgenesis of the cerebellar vermis | |
| HP:0040183 | Encopresis | |
| HP:0000238 | Hydrocephalus | |
| HP:0000047 | Hypospadias | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0030088 | Increased serum testosterone level | |
| HP:0001572 | Macrodontia | |
| HP:0000053 | Macroorchidism | |
| HP:0003251 | Male infertility | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000054 | Micropenis | |
| HP:0000798 | Oligozoospermia | |
| HP:0010865 | Oppositional defiant disorder | |
| HP:0001250 | Seizure | |
| HP:0100033 | Tics | |
| HP:0012871 | Varicocele | |
| Very rare (<4-1%) | ||
| HP:0008770 | Obsessive-compulsive trait | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 21671976[PMID]_23695861[PMID]_6419709[PMID]_36803654[PMID]_23810129[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/8
- This record as JSON: /data/d/8.json