EVEN-plus syndrome
Synonyms: Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares, or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum, and cardiac, gastrointestinal, and/or urogenital malformations, among others. Psychomotor development may be delayed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EVEN-plus syndrome | Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome |
| fr | Syndrome EVEN-plus | Syndrome de dysplasie épiphysaire-vertébrale-oreilles-nez avec caractéristiques associées |
| de | EVEN plus-Syndrom | Epiphysen-Wirbelkörper-Ohren-Nasendysplasie-Syndrom mit weiteren Fehlbildungen |
| es | Síndrome EVEN-plus | Síndrome de displasia de epífisis-vertebras-oídos-nariz más hallazgos asociados |
| it | Sindrome EVEN-plus | |
| nl | EVEN-plus syndroom | Epifysaire-vertebrale-oor-neus dysplasie plus geassocieerde bevindingen-syndroom |
| pt | Síndrome de EVEN-plus | |
| pl | Zespół EVEN-plus | Zespół dysplazji nasadowo-kręgosłupowo-usznej, płaskiego nosa plus/oraz towarzyszących wad |
| cs | EVEN-plus syndrom | Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome · Epifyzeální a vertebrální dysplázie, mikrocie, plochý nos a přidružené vady |
| uk | Синдром EVEN-plus | Синдром епіфізарно-вертебрально-вушна дисплазія та ніс-плюс асоційовані знахідки |
| zh | EVEN叠加综合征 | 骨骺-脊椎-耳发育不良-鼻-附加性相关病变综合征 |
| tr | EVEN-plus sendromu | Epifiz-omur-kulak displazisi-burun artı ilişkili bulgular sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616854 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014801 | E | validated | |
| UMLS | C4225180 | 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 (4):
- 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:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HSPA9 | Disease-causing germline mutation(s) in | Assessed | HGNC:5244 | ENSG00000113013 | 600548 | 5q31.2 | heat shock protein family A (Hsp70) member 9 | 26598328[PMID]_10424819[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 26598328[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26598328[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/496751
- This record as JSON: /data/d/496751.json