ORPHA:261483
Xq27.3q28 duplication syndrome
Synonyms: Dup(X)(q27.3q28) · Trisomy Xq27.3-q28 · Trisomy Xq27.3q28 · Xq27.3-q28 microduplication syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Xq27.3q28 duplication syndrome | Dup(X)(q27.3q28) · Trisomy Xq27.3-q28 · Trisomy Xq27.3q28 · Xq27.3-q28 microduplication syndrome |
| fr | Syndrome de duplication Xq27.3q28 | Dup(X)(q27.3q28) · Syndrome de microduplication Xq27.3-q28 · Trisomie Xq27.3-q28 · Trisomie Xq27.3q28 |
| de | Xq27.3q28-Duplikations-Syndrom | Del(X)(q27.3q28) · Dup(X)(q27.3q28) · Trisomie Xq27.3-q28 |
| es | Síndrome de duplicación Xq27.3q28 | Dup(X)(q27.3q28) · Síndrome de microduplicación Xq27.3-q28 · Trisomía Xq27.3-q28 · Trisomía Xq27.3q28 |
| it | Sindrome da duplicazione Xq27.3q28 | Dup(X)(q27.3q28) · Sindrome da microduplicazione Xq27.3-q28 · Trisomia Xq27.3-q28 · Trisomia Xq27.3q28 |
| nl | Xq27.3q28-duplicatiesyndroom | Dup(X)(q27.3q28) · Trisomie Xq27.3-q28 · Trisomie Xq27.3q28 · Xq27.3-q28-microduplicatiesyndroom |
| pt | Síndrome de duplicação Xq27.3q28 | Trissomia Xq27.3q28 |
| pl | Zespół duplikacji Xq27.3q28 | Dup(X)(q27.3q28) · Trisomia Xq27.3q28 · Trisomia Xq27.3-q28 · Zespół mikroduplikacji Xq27.3-q28 |
| cs | Syndrom duplikace Xq27.3q28 | Dup(X)(q27.3q28) · Trizomie Xq27.3-q28 · Trizomie Xq27.3q28 · Xq27.3-q28 mikroduplikační syndrom |
| uk | Синдром дуплікації Xq27.3q28 | Dup(X)(q27.3q28) · Трисомія Xq27.3q28 · Трисомія Xq27.3-q28 · Синдром мікродуплікації Xq27.3-q28 |
| zh | Xq27.3q28重复综合征 | Xq27.3-q28微重复综合征 |
| tr | Xq27.3q28 duplikasyon sendromu | Dup (X) (q27.3q28) · Trizomi Xq27.3q28 · Trizomi Xq27.3-q28 · Xq27.3-q28 mikroduplikasyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300869 | E | validated | |
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD51 | NTBT | index | validated |
| MONDO | 0010467 | E | validated | |
| UMLS | C4305103 | 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:263783Partial duplication of the long arm of chromosome X syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3423Vasquez-Hurst-Sotos syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FMR1 | Role in the phenotype of | Assessed | HGNC:3775 | ENSG00000102081 | 309550 | Xq27.3 | fragile X messenger ribonucleoprotein 1 | 19844254[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 19844254[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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001620 | Abnormally high-pitched voice | |
| HP:0000414 | Bulbous nose | |
| HP:0000028 | Cryptorchidism | |
| HP:0008734 | Decreased testicular size | |
| HP:0000490 | Deeply set eye | |
| HP:0001508 | Failure to thrive | |
| HP:0001263 | Global developmental delay | |
| HP:0000135 | Hypogonadism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001773 | Short foot | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0000233 | Thin vermilion border | |
| Frequent (79-30%) | ||
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000771 | Gynecomastia | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002231 | Sparse body hair | |
| HP:0001956 | Truncal obesity | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19844254[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261483
- This record as JSON: /data/d/261483.json