BNAR syndrome
Synonyms: Bifid nose with or without anorectal and renal anomalies
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | BNAR syndrome | Bifid nose with or without anorectal and renal anomalies |
| fr | Syndrome BNAR | Nez bifide avec ou sans anomalies anorectales et rénales |
| de | BNAR-Syndrom | Bifide Nase mit/ohne anorektale und renale Anomalien |
| es | Síndrome BNAR | Nariz bífida con o sin anomalías anorrectales y renales |
| it | Sindrome BNAR | Naso bifido con o senza anomalie renali e anorettali |
| nl | BNAR-syndroom | Bifide neus met of zonder anorectale en renale anomalieën |
| pt | Síndrome de BNAR | |
| pl | Zespół BNAR | Rozszczep nosa z lub bez wad odbytu i odbytnicy oraz nerek |
| cs | BNAR syndrom | Rozštěp nosu s nebo bez anorektálních a renálních anomálií |
| uk | Синдром BNAR | Біфідний ніс з аномаліями аноректальної та ниркової системи або без них |
| zh | 二裂鼻伴或不伴肛门直肠和肾异常综合征 | 二裂鼻伴或不伴肛门直肠和肾异常综合征 |
| tr | BNAR sendromu | Anorektal ve böbrek anomalileri olan veya olmayan bifid burun |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608980 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0012165 | E | validated | |
| MeSH | C567672 | E | validated | |
| UMLS | C2750433 | E | validated | |
| GARD | 10595 | 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 (6):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:435606Genetic nose and cavum anomaly
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FREM1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:23399 | ENSG00000164946 | 608944 | 9p22.3 | FRAS1 related extracellular matrix 1 | 19732862[PMID]_23401257[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 families | Worldwide | Family(ies) | Validated | 24115501[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
7 annotations · validated 2017-01-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011803 | Bifid nose | |
| Very frequent (99-80%) | ||
| HP:0010322 | Abnormality of the 5th toe | |
| HP:0002025 | Anal stenosis | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0000200 | Short lingual frenulum | |
| Frequent (79-30%) | ||
| HP:0000104 | Renal agenesis | |
| Occasional (29-5%) | ||
| HP:0012252 | Abnormal respiratory system morphology | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 19732862[PMID]_23401257[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217266
- This record as JSON: /data/d/217266.json