ORPHA:2669
Nephrosis-deafness-urinary tract-digital malformations syndrome
historical
Synonyms: Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nephrosis-deafness-urinary tract-digital malformations syndrome | Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome |
| fr | Syndrome de néphrose-surdité-anomalies des voies urinaires et des doigts | Syndrome de Braun-Bayer |
| de | Nephrose-Schwerhörigkeit-Harnwegsanomalien-Fingerfehlbildungen-Syndrom | Braun-Bayer-Syndrom |
| es | Síndrome de nefrosis-sordera-malformaciones del tracto urinario y digitales | Síndrome de Braun-Bayer · Síndrome de nefrosis-hipoacusia-malformaciones del tracto urinario y digitales |
| it | Sindrome da nefrosi-sordità-malaformazioni delle vie urinarie e delle dita | Sindrome di Braun-Bayer |
| nl | Nefrose - doofheid - urineweg - digitale misvormingen-syndroom | Syndroom van Braun-Bayer |
| pt | Síndrome de nefrose-surdez-malformações do tracto urinário e digitais | Síndrome Braun-Bayer |
| pl | Nefroza - głuchota - wady układu moczowego i palców | Zespół Brauna i Bayera |
| cs | Syndrom zahrnující nefrózu, hluchotu, malformace močového traktu a prstů | Braunův-Bayerův syndrom · Braun-Bayerův syndrom |
| uk | Синдром нефрозу-глухоти-сечовивідних шляхів-вад розвитку пальців | Синдром Брауна-Байєра · Синдром нефрозу - втратиа слуху - сечовивіднихі шляхів - вад розвитку пальців |
| zh | 肾病-耳聋-泌尿道-手指畸形综合征 | Braun-Bayer 综合征 |
| tr | Nefroz-sağırlık-idrar yolu-dijital malformasyon sendromu | Nefroz-işitme kaybı-idrar yolu-dijital malformasyon sendromu · Braun-Bayer sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256200 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0009731 | E | validated | |
| MeSH | C536402 | E | validated | |
| UMLS | C4510366 | E | validated | |
| GARD | 3943 | 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: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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
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 | 5 cases | Worldwide | Case(s) | Validated | 13872585[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_13872585[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
9 annotations · validated 2017-10-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001172 | Abnormal thumb morphology | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0009611 | Bifid distal phalanx of the thumb | |
| HP:0000193 | Bifid uvula | |
| HP:0010055 | Broad hallux | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000126 | Hydronephrosis | |
| HP:0008071 | Maternal hypertension | |
| HP:0010097 | Partial duplication of the distal phalanx of the hallux | |
Annotation source: 13872585[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2669
- This record as JSON: /data/d/2669.json