49,XXXYY syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 49,XXXYY syndrome | |
| fr | Syndrome 49,XXXYY | |
| de | 49,XXXYY-Syndrom | |
| es | Síndrome 49,XXXYY | |
| it | Sindrome 49,XXXYY | |
| nl | 49,XXXYY-syndroom | |
| pt | Síndrome 49,XXXYY | |
| pl | Zespół 49,XXXYY | |
| cs | 49,XXXYY syndrom | |
| uk | Синдром 49,XXXYY | |
| zh | 49,XXXYY综合征 | |
| tr | 49, XXXYY sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q98.8 | NTBT | attributed | validated |
| MONDO | 0016854 | E | validated | |
| UMLS | C4749586 | E | validated | |
| GARD | 10922 | 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:263749X and Y chromosomal 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 3697588[PMID]_14015109[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
34 annotations · validated 2015-12-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0010506 | Abnormal plantar dermatoglyphics | |
| HP:0045058 | Abnormality of the testis size | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0008734 | Decreased testicular size | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000286 | Epicanthus | |
| HP:0003782 | Eunuchoid habitus | |
| HP:0003241 | External genital hypoplasia | |
| HP:0040019 | Finger clinodactyly | |
| HP:0001263 | Global developmental delay | |
| HP:0000771 | Gynecomastia | |
| HP:0000316 | Hypertelorism | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0001249 | Intellectual disability | |
| HP:0000744 | Low frustration tolerance | |
| HP:0000026 | Male hypogonadism | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000347 | Micrognathia | |
| HP:0000054 | Micropenis | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0000774 | Narrow chest | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0008193 | Primary gonadal insufficiency | |
| HP:0011220 | Prominent forehead | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 7199254[PMID]_7567329[PMID]_3697588[PMID]_7156028[PMID]_4838894[PMID]_8546146[PMID]_2090319[PMID]_14015109[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261534
- This record as JSON: /data/d/261534.json