Vitamin K antagonist embryofetopathy
Synonyms: Vitamin K antagonist embryopathy · Warfarin embryofetopathy · Warfarin embryopathy · di Sala syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists, such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities, including short limbs and digits (brachydactyly), and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus, intellectual disability, spasticity, and hypotonia) or ocular abnormalities (microphthalmia, cataract, optic atrophy), fetal loss, and stillbirth, occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate, malformed ears), choanal atresia or stenosis, aorta coarctation, situs inversus totalis, bilobed lungs, and ventral midline dysplasia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vitamin K antagonist embryofetopathy | Vitamin K antagonist embryopathy · Warfarin embryofetopathy · Warfarin embryopathy · di Sala syndrome |
| fr | Embryofoetopathie aux anti-vitamine K | Embryofoetopathie à la warfarine · Syndrome foetal de la warfarine |
| de | Vitamin K-Antagonisten-Embryopathie | Embryofetopathie durch Vitamin K-Antagonisten · Fetales Warfarinsyndrom · Warfarin-Embryofetopathie · Warfarin-Embryopathie · Di Sala-Syndrom |
| es | Embriofetopatía por antagonistas de la vitamina K | Embriofetopatía por warfarina · Embriopatía por antagonistas de la vitamina K · Embriopatía por warfarina · Síndrome de di Sala |
| it | Embrio/fetopatia da antagonisti della vitamina K | Embriofetopatia da antagonisti della vitamina K · Embriopatia da cumarina · Sindrome fetale da warfarin |
| nl | Vitamine K-antagonisten-embryofoetopathie | Warfarine-embryopathie · Syndroom van di Sala · Vitamine K-antagonisten-embryofoetopathie · Vitamine K-antagonisten-embryopathie · Warfarine-embryofoetopathie |
| pt | Embriofetopatia por antagonistas da vitamina K | Embriofetopatia por varfarina · Embriopatia por antagonistas da vitamina K · Embriopatia por varfarina · Síndrome di Sala |
| pl | Embriofetopatia antagonistów witaminy K | Zespół di Sala · Embriopatia warfarynowa · Embriofetopatia warfarynowa · Embriopatia antagonistów witaminy K |
| cs | Embryofetopatie způsobená terapií orálními antikoagulancii | Kumarinová embryopatie · Fetální warfarinový syndrom · Embryofetopatie způsobená antagonisty vitaminu K |
| uk | Ембріофетопатія антагоністів вітаміну К | Синдром ді Сала · Ембріопатія антагоністів вітаміну К · Варфаринова ембріофетопатія · Варфаринова ембріопатія |
| zh | 维生素K拮抗剂胎儿胚胎病 | 维生素K拮抗剂胚胎病 |
| tr | K vitamini antagonisti embriyofetopatisi | di Sala sendromu · Warfarin embriyopatisi · Warfarin embriyofetopati · K vitamini antagonisti embriyopatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q86.2 | NTBT | attributed | validated |
| ICD-11 | LD2F.02 | NTBT | index | validated |
| MONDO | 0016010 | E | validated | |
| MeSH | C536683 | E | validated | |
| UMLS | C0265374 | E | validated | |
| GARD | 8580 | E | validated | |
| MedDRA | 10051445 | 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:138059Teratogenic Pierre Robin syndrome
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:251529Toxic or drug-related embryofetopathy
rare developmental anomalies during embryogenesis; rare disorders due to toxic effects; rare teratologic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0010655 | Epiphyseal stippling | |
| HP:0008420 | Punctate vertebral calcifications | |
| HP:0003196 | Short nose | |
| Frequent (79-30%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0000470 | Short neck | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0000518 | Cataract | |
| HP:0000453 | Choanal atresia | |
| HP:0000365 | Hearing impairment | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0000158 | Macroglossia | |
| HP:0008551 | Microtia | |
| HP:0002475 | Myelomeningocele | |
| HP:0000648 | Optic atrophy | |
| HP:0000520 | Proptosis | |
| HP:0001250 | Seizure | |
| HP:0000505 | Visual impairment | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1914
- This record as JSON: /data/d/1914.json