Beemer-Ertbruggen syndrome
historical
Synonyms: Lethal hydrocephalus-cardiac malformation-dense bones syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Beemer-Ertbruggen syndrome | Lethal hydrocephalus-cardiac malformation-dense bones syndrome |
| fr | Syndrome de Beemer-Ertbruggen | Syndrome létal d'hydrocéphalie-malformation cardiaque-hyperdensité osseuse |
| de | Beemer-Ertbruggen-Syndrom | Hydrozephalus - Herzfehlbildung - hohe Knochendichte |
| es | Síndrome de Beemer-Ertbruggen | Síndrome letal de hidrocefalia-malformación cardíaca-huesos densos |
| it | Sindrome di Beemer-Ertbruggen | Idrocefalo - malformazione cardiaca - ossa dense |
| nl | Syndroom van Beemer-Ertbruggen | Letaal hydrocefalus - hartmalformatie - hoge botdensiteit-syndroom |
| pt | Síndrome Beemer-Ertbruggen | Síndrome letal de hidrocefalia-malformação cardíaca-ossos densos |
| pl | Zespół Beemera i Ertbruggena | Śmiertelny zespół wodogłowia, wad serca i gęstych kości |
| cs | Beemerův-Ertbruggenův syndrom | Syndrom zahrnující hydrocefalus, srdeční malformace a zvýšenou denzitu kostí · Beemer-Ertbruggenův syndrom |
| uk | Синдром Бімера-Ертбрюггена | Летальний синдром гідроцефалії - серцевої вади - щільних кісток |
| zh | Beemer-Ertbruggen综合征 | 致死性脑积水-心脏畸形-致密骨综合征 |
| tr | Beemer-Ertbruggen sendromu | Letal hidrosefali-kardiyak malformasyon-yoğun kemik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 209970 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008857 | E | validated | |
| MeSH | C537668 | E | validated | |
| UMLS | C1859526 | E | validated | |
| GARD | 846 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
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 | 6507485[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6507485[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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000414 | Bulbous nose | |
| HP:0000028 | Cryptorchidism | |
| HP:0002002 | Deep philtrum | |
| HP:0011001 | Increased bone mineral density | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0001334 | Communicating hydrocephalus | |
| HP:0001252 | Hypotonia | |
| HP:0001873 | Thrombocytopenia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1237
- This record as JSON: /data/d/1237.json