Overgrowth syndrome with 2q37 translocation
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Overgrowth syndrome with 2q37 translocation | |
| fr | Syndrome de croissance excessive avec translocation 2q37 | |
| de | Großwuchs-Syndrom mit Translokation 2q37 | |
| es | Síndrome de sobrecrecimiento con translocación 2q37 | |
| it | Iperaccrescimento associato a traslocazioni in 2q37 | |
| nl | Overgroeisyndroom met 2q37 translocatie | |
| pt | Síndrome de sobrecrescimento com translocação 2q37 | |
| pl | Zespół nadmiernego wzrostu z translokacją 2q37 | |
| cs | Overgrowth syndrom s translokací 2q37 | |
| uk | Синдром надмірного росту з транслокацією 2q37 | |
| zh | 过度生长综合征合并2q37易位 | |
| tr | 2q37 translokasyonu ile seyreden aşırı büyüme sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0034676 | E | validated | |
| UMLS | C5567236 | 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 (2):
- ORPHA:263708Complex chromosomal rearrangement syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:498448Overgrowth or tall stature syndrome with skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 4 cases | Worldwide | Case(s) | Validated | 25728306[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25728306[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/498488
- This record as JSON: /data/d/498488.json