EN1-related dorsoventral syndrome
Synonyms: ENDOVE syndrome · ENDOVES
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare mesomelic and rhizo-mesomelic dysplasia characterized by marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EN1-related dorsoventral syndrome | ENDOVE syndrome · ENDOVES |
| fr | Syndrome dorsoventral lié à EN1 | Syndrome ENDOVE |
| de | EN1-assoziiertes dorsoventrales Syndrom | ENDOVES · Extremitätenfehlbildung, EN1-assoziierte · ENDOVE-Syndrom |
| es | Síndrome dorsoventral asociado al gen EN1 | ENDOVES · Síndrome ENDOVE |
| it | Sindrome dorsoventrale correlata a EN1 | ENDOVES · Sindrome ENDOVE |
| nl | EN1-gerelateerd dorsoventraal syndroom | ENDOVE-syndroom · ENDOVES |
| pt | Síndrome dorsoventral EN1-relacionado | ENDOVES · Síndrome ENDOVE |
| pl | Zespół grzietowo-brzuszny związany z EN1 | = en |
| cs | Dorzoventrální syndrom související s EN1 | = en |
| uk | Дорсовентральний синдром, повязаний з EN1 | Синдром ENDOVE · ENDOVES |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619217 | BTNT | validated | |
| OMIM | 619218 | BTNT | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | attributed | validated |
| MONDO | 1040032 | E | validated | |
| UMLS | C5680225 | 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:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:269523Syndrome with a cerebellar malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological 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 | 4 cases | Worldwide | Case(s) | Validated | 33568816[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33568816[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/611223
- This record as JSON: /data/d/611223.json