Maternal hyperthermia-induced birth defects
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maternal hyperthermia-induced birth defects | |
| fr | Hyperthermie tératogène | |
| de | Maternale Hyperthermie-induzierte Geburtsfehler | |
| es | Defectos de nacimiento inducidos por hipertermia materna | |
| it | Difetti congeniti indotti dall'ipertermia materna | |
| nl | Geboortedefecten geïnduceerd door maternale hyperthermie | |
| pt | Anomalias fetais induzidas por hipertermia materna | Embriofetopatia por hipertermia |
| pl | Matczyna hipertermia powodująca wady płodu | |
| cs | Maternální hypertermie indukovaná vrozenými vadami | |
| uk | Вроджені вади розвитку, спричинені материнською гіпертермією | |
| zh | 母源性过高热引起出生缺陷 | |
| tr | Maternal hipertermiye bağlı doğum defektleri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q86.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.Y | NTBT | index | validated |
| MONDO | 0016378 | E | validated | |
| UMLS | C4707329 | E | validated | |
| GARD | 2856 | 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:251535Maternal disease-related embryofetopathy
rare developmental anomalies during embryogenesis; rare teratologic disorders - ORPHA:138059Teratogenic Pierre Robin syndrome
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
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 | 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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100543 | Cognitive impairment | |
| HP:0002353 | EEG abnormality | |
| HP:0001252 | Hypotonia | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001387 | Joint stiffness | |
| HP:0000252 | Microcephaly | |
| HP:0011800 | Midface retrusion | |
| Occasional (29-5%) | ||
| HP:0001276 | Hypertonia | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2216
- This record as JSON: /data/d/2216.json