48,XYYY syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 48,XYYY syndrome | |
| fr | Syndrome 48,XYYY | |
| de | 48,XYYY-Syndrom | |
| es | Síndrome 48,XYYY | |
| it | 48,XYYY | |
| nl | 48,XYYY-syndroom | |
| pt | Síndrome 48,XYYY | |
| pl | Zespół 48,XYYY | |
| cs | 48,XYYY syndrom | |
| uk | 48,XYYY синдром | |
| zh | 48，XYYY综合征 | |
| tr | 48, XYYY sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q98.8 | NTBT | attributed | validated |
| MONDO | 0020469 | E | validated | |
| UMLS | C4518082 | E | validated | |
| GARD | 11985 | 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 (5):
- 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:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases - 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 | 10 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
31 annotations · validated 2015-12-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0012210 | Abnormal renal morphology | |
| HP:0001061 | Acne | |
| HP:0000718 | Aggressive behavior | |
| HP:0002099 | Asthma | |
| HP:0000708 | Atypical behavior | |
| HP:0000027 | Azoospermia | |
| HP:0000750 | Delayed speech and language development | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0003083 | Dislocated radial head | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000286 | Epicanthus | |
| HP:0011968 | Feeding difficulties | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0100710 | Impulsivity | |
| HP:0001249 | Intellectual disability | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0006316 | Irregularly spaced teeth | |
| HP:0000343 | Long philtrum | |
| HP:0000744 | Low frustration tolerance | |
| HP:0000026 | Male hypogonadism | |
| HP:0001763 | Pes planus | |
| HP:0008193 | Primary gonadal insufficiency | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0000470 | Short neck | |
| HP:0000098 | Tall stature | |
| HP:0000179 | Thick lower lip vermilion | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 7604847[PMID]_1296523[PMID]_14283740[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99329
- This record as JSON: /data/d/99329.json