Dobrow syndrome
Synonyms: Syngnathia-multiple anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dobrow syndrome | Syngnathia-multiple anomalies syndrome |
| fr | Syndrome de Dobrow | Syndrome de syngnathie-anomalies multiples |
| de | Dobrow-Syndrom | Syngnathie-multiple Anomalien-Syndrom |
| es | Síndrome de Dobrow | Síndrome de singnatia-anomalías múltiples |
| it | Sindrome di Dobrow | Sindrome singnazia - anomalie multiple |
| nl | Syndroom van Dobrow | Syngnathie - meervoudige anomalieën-syndroom |
| pt | Síndrome Dobrow | Síndrome de singnatia-anomalias múltiplas |
| pl | Syngnathia multiple anomalies | = en |
| cs | Syngnathia s mnohočetnými anomáliemi | = en |
| uk | Синдром Доброва | Синдром синдрому множинних аномалій |
| zh | Dobrow综合征 | 连颌畸形-多发异常综合征 |
| tr | Dobrow sendromu | Singnati-çoklu anomaliler sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0017980 | E | validated | |
| UMLS | C5190737 | E | validated | |
| GARD | 5092 | 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 (1):
- ORPHA:93453Dysostosis with predominant craniofacial 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 | 2 cases | Worldwide | Case(s) | Validated | 6580396[PMID]_15365455[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6580396[PMID]_15365455[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/3262
- This record as JSON: /data/d/3262.json