49,XYYYY syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 49,XYYYY syndrome | |
| fr | Syndrome 49,XYYYY | |
| de | 49,XYYYY-Syndrom | |
| es | Síndrome 49,XYYYY | |
| it | 49,XYYYY | |
| nl | 49,XYYYY-syndroom | |
| pt | Síndrome 49,XYYYY | |
| pl | Zespół 49,XYYYY | |
| cs | 49,XYYYY syndrom | |
| uk | 49,XYYYY синдром | |
| zh | 49，XYYYY 综合征 | |
| tr | 49, XYYYY sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q98.8 | NTBT | attributed | validated |
| MONDO | 0020470 | E | validated | |
| UMLS | C4518342 | 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 (3):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 28137251[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28137251[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
43 annotations · validated 2015-12-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0003946 | Abnormality of the epiphyses of the elbow | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0045058 | Abnormality of the testis size | |
| HP:0000708 | Atypical behavior | |
| HP:0000027 | Azoospermia | |
| HP:0011310 | Bridged palmar crease | |
| HP:0000280 | Coarse facial features | |
| HP:0002967 | Cubitus valgus | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0008734 | Decreased testicular size | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000750 | Delayed speech and language development | |
| 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:0001252 | Hypotonia | |
| HP:0100710 | Impulsivity | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0001249 | Intellectual disability | |
| HP:0004237 | Large carpal bones | |
| HP:0000744 | Low frustration tolerance | |
| HP:0000026 | Male hypogonadism | |
| HP:0000347 | Micrognathia | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0008193 | Primary gonadal insufficiency | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0002650 | Scoliosis | |
| HP:0009237 | Short 5th finger | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0000519 | Developmental cataract | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0001176 | Large hands | |
| HP:0000394 | Lop ear | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0000243 | Trigonocephaly | |
| HP:0000262 | Turricephaly | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 8546146[PMID]_2090319[PMID]_9805123[PMID]_7400784[PMID]_7471512[PMID]_6652949[PMID]_6491641[PMID]_3261145[PMID]_7567329[PMID]_12655500[PMID]_17159520[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99330
- This record as JSON: /data/d/99330.json