ORPHA:2460
Van den Ende-Gupta syndrome
Synonyms: Marden-Walker-like syndrome · VDEGS
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Van den Ende-Gupta syndrome | Marden-Walker-like syndrome · VDEGS |
| fr | Syndrome de Van den Ende-Gupta | Syndrome de Marden-Walker-like · VDEGS |
| de | Van den Ende-Gupta-Syndrom | Marden-Walker-ähnliches Syndrom · VDEGS |
| es | Síndrome de Van den Ende-Gupta | Síndrome similar a Marden-Walker · VDEGS |
| it | Sindrome di Van den Ende-Gupta | Sindrome Marden-Walker-simile · VDEGS |
| nl | Syndroom van Van den Ende-Gupta | Marden-Walker-achtig syndroom · VDEGS |
| pt | Síndrome Van den Ende-Gup | Síndrome Marden-Walker-like · VDEGS |
| pl | Zespół Van den Ende i Gupta | VDEGS · Zespół podobny do zespołu Mardena i Walkera |
| cs | Van den Endové-Guptův syndrom | Syndrom podobný Mardenovu-Walkerovu syndromu · VDEGS · Van den Ende-Guptův syndrom · Syndrom podobný Marden-Walkerovu syndromu |
| uk | Синдром Ван ден Енде-Гупта | Синдром Мардена-Уокера · VDEGS |
| zh | Van den Ende-Gupta综合征 | 类Marden-Walker综合征 |
| tr | Van den Ende-Gupta sendromu | VDEGS · Marden-Walker benzeri sendrom |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600920 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD26.41 | NTBT | index | validated |
| MONDO | 0010959 | E | validated | |
| MeSH | C535909 | E | validated | |
| UMLS | C1833136 | E | validated | |
| GARD | 3382 | 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 (5):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SCARF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19869 | ENSG00000244486 | 613619 | 22q11.21 | scavenger receptor class F member 2 | 20887961[PMID]_22140376[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 29 cases | Worldwide | Case(s) | Validated | 24478002[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24478002[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.
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HPO phenotypes
38 annotations · validated 2025-04-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0000581 | Blepharophimosis | |
| HP:0012385 | Camptodactyly | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000272 | Malar flattening | |
| Frequent (79-30%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0006487 | Bowing of the long bones | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0003083 | Dislocated radial head | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0034391 | Elbow contracture | |
| HP:0000324 | Facial asymmetry | |
| HP:0001822 | Hallux valgus | |
| HP:0000218 | High palate | |
| HP:0034392 | Joint contracture | |
| HP:0000895 | Lateral clavicle hook | |
| HP:0001833 | Long foot | |
| HP:0000460 | Narrow nose | |
| HP:0000411 | Protruding ear | |
| HP:0006236 | Slender metacarpals | |
| HP:0000883 | Thin ribs | |
| HP:0000325 | Triangular face | |
| Occasional (29-5%) | ||
| HP:0008744 | Abnormal aryepiglottic fold morphology | |
| HP:0009929 | Abnormal columella morphology | |
| HP:0030084 | Clinodactyly | |
| HP:0001363 | Craniosynostosis | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000678 | Dental crowding | |
| HP:0004411 | Deviated nasal septum | |
| HP:0006633 | Glenoid fossa hypoplasia | |
| HP:0000365 | Hearing impairment | |
| HP:0000126 | Hydronephrosis | |
| HP:0034671 | Knee contracture | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0000647 | Sclerocornea | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000430 | Underdeveloped nasal alae | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 33783941[PMID]_27375131[PMID]_23808541[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2460
- This record as JSON: /data/d/2460.json