ORPHA:314585
15q overgrowth syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 15q overgrowth syndrome | |
| fr | Gigantisme 15q | |
| de | 15q-Großwuchs-Syndrom | |
| es | Síndrome de sobrecrecimiento 15q | |
| it | Sindrome da iperaccrescimento 15q | |
| nl | 15q-overgroeisyndroom | |
| pt | Síndrome de sobrecrescimento 15q | |
| pl | Zespół nadmiernego wzrostu 15q | |
| cs | Syndrom nadměrného vzrůstu vázaný na 15q | |
| uk | Синдром надмірного росту 15q | |
| zh | 15q生长过度综合征 | |
| tr | 15q aşırı büyüme sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614846 | BTNT | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0017806 | E | validated | |
| UMLS | C4749920 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:98642Chromosomal anomaly with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:93461Chromosomal disease with overgrowth
rare developmental anomalies during embryogenesis; rare genetic diseases - 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:262950Partial duplication of the long arm of chromosome 15 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 19133692[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.
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HPO phenotypes
64 annotations · validated 2015-09-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0012210 | Abnormal renal morphology | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0001166 | Arachnodactyly | |
| HP:0000280 | Coarse facial features | |
| HP:0007642 | Congenital stationary night blindness | |
| HP:0009540 | Contracture of the proximal interphalangeal joint of the 2nd finger | |
| HP:0009471 | Contracture of the proximal interphalangeal joint of the 3rd finger | |
| HP:0001363 | Craniosynostosis | |
| HP:0001519 | Disproportionate tall stature | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000218 | High palate | |
| HP:0002705 | High, narrow palate | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000126 | Hydronephrosis | |
| HP:0000316 | Hypertelorism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001382 | Joint hypermobility | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000308 | Microretrognathia | |
| HP:0001270 | Motor delay | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0001548 | Overgrowth | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000278 | Retrognathia | |
| HP:0000506 | Telecanthus | |
| HP:0008714 | Ureterovesical stenosis | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0006143 | Abnormal finger flexion creases | |
| HP:0000766 | Abnormal sternum morphology | |
| HP:0008519 | Abnormality of the coccyx | |
| HP:0010653 | Abnormality of the falx cerebri | |
| HP:0000676 | Abnormality of the incisor | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000193 | Bifid uvula | |
| HP:0012444 | Brain atrophy | |
| HP:0001623 | Breech presentation | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000678 | Dental crowding | |
| HP:0000268 | Dolichocephaly | |
| HP:0002315 | Headache | |
| HP:0000238 | Hydrocephalus | |
| HP:0001347 | Hyperreflexia | |
| HP:0001176 | Large hands | |
| HP:0000256 | Macrocephaly | |
| HP:0000272 | Malar flattening | |
| HP:0000303 | Mandibular prognathia | |
| HP:0001653 | Mitral regurgitation | |
| HP:0000410 | Mixed hearing impairment | |
| HP:0002667 | Nephroblastoma | |
| HP:0001845 | Overlapping toe | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000319 | Smooth philtrum | |
| HP:0000486 | Strabismus | |
| HP:0003396 | Syringomyelia | |
| HP:0005180 | Tricuspid regurgitation | |
| HP:0000262 | Turricephaly | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000431 | Wide nasal bridge | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 22653535[PMID]_22711292[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314585
- This record as JSON: /data/d/314585.json