ORPHA:171929
Trisomy 10p syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trisomy 10p syndrome | |
| fr | Syndrome de trisomie 10p | |
| de | Trisomie 10p | |
| es | Síndrome de trisomia 10p | |
| it | Sindrome trisomia 10p | |
| nl | Trisomie 10p-syndroom | |
| pt | Trissomia 10p | |
| pl | Zespół trisomii 10p | |
| cs | Trizomie 10p | |
| uk | Трисомія 10р | |
| zh | 10号染色体短臂三体 | |
| tr | Trizomi 10p |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.2 | NTBT | attributed | validated |
| ICD-11 | LD41.91 | NTBT | index | validated |
| MONDO | 0015761 | E | validated | |
| UMLS | C4082793 | E | validated | |
| GARD | 5299 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:262776Partial duplication of the short arm of chromosome 10 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | Unknown | — | 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
63 annotations · validated 2021-03-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001510 | Growth delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001518 | Small for gestational age | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001760 | Abnormal foot morphology | |
| HP:0000159 | Abnormal lip morphology | |
| HP:0000598 | Abnormality of the ear | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0001155 | Abnormality of the hand | |
| HP:0000366 | Abnormality of the nose | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000268 | Dolichocephaly | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0011220 | Prominent forehead | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0006958 | Abnormal auditory evoked potentials | |
| HP:0001627 | Abnormal heart morphology | |
| HP:0001384 | Abnormality of the hip joint | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0011467 | Absent gallbladder | |
| HP:0000463 | Anteverted nares | |
| HP:0012385 | Camptodactyly | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0003199 | Decreased muscle mass | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002015 | Dysphagia | |
| HP:0010851 | EEG with burst suppression | |
| HP:0011193 | EEG with focal spikes | |
| HP:0000286 | Epicanthus | |
| HP:0009600 | Flexion contracture of thumb | |
| HP:0002266 | Focal clonic seizure | |
| HP:0002007 | Frontal bossing | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002937 | Hemivertebrae | |
| HP:0000218 | High palate | |
| HP:0011181 | Low voltage EEG | |
| HP:0000369 | Low-set ears | |
| HP:0000400 | Macrotia | |
| HP:0000347 | Micrognathia | |
| HP:0005562 | Multiple renal cysts | |
| HP:0000202 | Orofacial cleft | |
| HP:0012794 | Periventricular white matter hypodensities | |
| HP:0002275 | Poor motor coordination | |
| HP:0002033 | Poor suck | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0011451 | Primary microcephaly | |
| HP:0000143 | Rectovaginal fistula | |
| HP:0000278 | Retrognathia | |
| HP:0011344 | Severe global developmental delay | |
| HP:0003196 | Short nose | |
| HP:0012745 | Short palpebral fissure | |
| HP:0001831 | Short toe | |
| HP:0009879 | Simplified gyral pattern | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000233 | Thin vermilion border | |
| HP:0006055 | Ulnar deviated club hands | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0010537 | Wide cranial sutures | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 10818221[PMID]_24798351[PMID]_12673647[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171929
- This record as JSON: /data/d/171929.json