ORPHA:3439
Von Voss-Cherstvoy syndrome
Synonyms: DK phocomelia syndrome · Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Von Voss-Cherstvoy syndrome | DK phocomelia syndrome · Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome |
| fr | Syndrome de von Voss-Cherstvoy | Syndrome DK phocomélie · Syndrome de phocomélie-thrombocytopénie-encéphalocèle-malformations urogénitales |
| de | Von-Voss-Cherstvoy-Syndrom | DK-Phokomelie-Syndrom · Phokomelie - Thrombozytopenie - Enzephalozele - urogenitale Fehlbildungen |
| es | Síndrome de Von Voss-Cherstvoy | |
| it | Sindrome di Von Voss-Cherstvoy | Focomelia - trombocitopenia - encefalocele - malformazioni urogenitali · Sindrome DK focomelia |
| nl | Syndroom van von Voss-Cherstvoy | DK-focomeliesyndroom · Focomelie - trombocytopenie - encefalocele - urogenitale malformaties-syndroom |
| pt | Síndrome von Voss-Cherstvoy | Síndrome de focomelia-trombocitopenia-encefalocelo-malformações urogenitais · Síndrome focomelia DK |
| pl | Zespół Von Vossa i Cherstvoy'a | Fokomelia - trombocytopenia - przepuklina mózgowa - wady układu moczowo-płciowego · Zespół fokomelii DK |
| cs | Von Voss Cherstvoyův syndrom | Syndrom fokomélie DK · Syndrom zahrnující fokomélii, trombocytopenii, encefalokélu a urogenitální malformace |
| uk | Синдром фон Фосса-Черствого | Синдром фокомелії ДК · Синдром фокомелії-тромбоцитопенії-енцефалоцеле-урогенітальних вад розвитку |
| zh | Von Voss-Cherstvoy综合征 | 海豹肢-血小板减少-脑膨出-泌尿生殖器畸形 |
| tr | Von Voss-Cherstvoy sendromu | DK phocomelia sendromu · Phocomelia-trombositopeni-ensefalosel-ürogenital malformasyon sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 223340 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009121 | E | validated | |
| MeSH | C565618 | E | validated | |
| UMLS | C1857226 | E | validated | |
| GARD | 1894 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | DOI:10.2147/IMCRJ.S108746[OTHER] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_DOI:10.2147/IMCRJ.S108746[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
23 annotations · validated 2025-01-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006496 | Aplasia/hypoplasia involving bones of the upper limbs | |
| HP:0002085 | Occipital encephalocele | |
| HP:0001873 | Thrombocytopenia | |
| HP:0009813 | Upper limb phocomelia | |
| Frequent (79-30%) | ||
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0100702 | Arachnoid cyst | |
| HP:0000453 | Choanal atresia | |
| HP:0000028 | Cryptorchidism | |
| HP:0000034 | Hydrocele testis | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000047 | Hypospadias | |
| HP:0002808 | Kyphosis | |
| HP:0000054 | Micropenis | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000692 | Tooth malposition | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 21358540[PMID]_25899150[PMID]_27499650[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3439
- This record as JSON: /data/d/3439.json