Verloove Vanhorick-Brubakk syndrome
historical
Synonyms: Cleft lip-limb and heart malformations syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Verloove Vanhorick-Brubakk syndrome | Cleft lip-limb and heart malformations syndrome |
| fr | Syndrome de Verloove-Van Horick-Brubakk | Syndrome de fente-malformations du coeur et des membres |
| de | Verloove-Vanhorick-Brubakk-Syndrom | Gaumenspalte-Extremitäten- und Herz-Fehlbildungssyndrom-Syndrom |
| es | Síndrome de Verloove Vanhorick-Brubakk | Síndrome de labio leporino-malformaciones cardíacas y de las extremidades |
| it | Sindrome di Verloove-Van Horick-Brubakk | Schisi - malformazione del cuore e degli arti |
| nl | Syndroom van Verloove-Vanhorick-Brubakk | Gespleten lip - ledemaat- en hartmalformaties-syndroom |
| pt | Síndrome Verloove-Vanhorick-Brubakk | Síndrome de fenda labial-malformações cardíacas e nos membros |
| pl | Zespół Verloove Vanhoricka i Brubakka | Zespół rozszczep - wady kończyn i serca |
| cs | Verloove Vanhorickův-Brubakkův syndrom | Syndrom zahrnující rozštěpy, malformace končetin a srdeční vady · Verloove Vanhorick-Brubakkův syndrom |
| uk | Синдром Верлува Ванхорика-Брубакка | Синдром розщеплення губи - вади розвитку кінцівок і серця |
| zh | Verlove-Vanhorick-Brubakk综合征 | 腭裂-肢体心脏异常综合征 |
| tr | Verloove Vanhorick-Brubakk sendromu | Yarık dudak-ekstremite ve kalp malformasyonları sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215850 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008991 | E | validated | |
| MeSH | C536541 | E | validated | |
| UMLS | C1859082 | E | validated | |
| GARD | 5482 | 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 (3):
- 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 - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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 | 7324930[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7324930[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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0000828 | Abnormality of the parathyroid gland | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0009826 | Limb undergrowth | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0008368 | Tarsal synostosis | |
| Frequent (79-30%) | ||
| HP:0100542 | Abnormal localization of kidney | |
| HP:0006101 | Finger syndactyly | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3429
- This record as JSON: /data/d/3429.json