ORPHA:857
Townes-Brocks syndrome
Synonyms: Imperforate anus-hand, foot and ear anomalies syndrome · REAR syndrome · Renal-ear-anal-radial syndrome · Sensorineural deafness with imperforate anus and hypoplastic thumbs · Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · TBS · Townes syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Townes-Brocks syndrome | Imperforate anus-hand, foot and ear anomalies syndrome · REAR syndrome · Renal-ear-anal-radial syndrome · Sensorineural deafness with imperforate anus and hypoplastic thumbs · Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · TBS · Townes syndrome |
| fr | Syndrome de Townes-Brocks | Syndrome REAR · TBS |
| de | Townes-Brocks-Syndrom | Analatresie mit Hand-, Fuß-und Ohranomalien · REAR-Syndrom · Sensorineurale Schwerhörigkeit mit Anus imperforatus und hypoplastischen Daumen · TBS · Townes-Syndrom |
| es | Síndrome de Townes-Brocks | Ano imperforado con anomalías en manos, pies y orejas · Hipoacusia neurosensorial con ano imperforado y pulgares hipoplásicos · Sordera neurosensorial con ano imperforado y pulgares hipoplásicos · Síndrome REAR · Síndrome de Townes · Síndrome renal-oído-anal-radial · TBS |
| it | Sindrome di Townes-Brocks | Ano imperforato con anomalie delle mani, dei piedi e dell'orecchio · Sindrome REAR · Sindrome di Townes · Sindrome renale-orecchio-anale-radiale · Sordità neurosensoriale con ano imperforato e ipoplasia dei pollici · TBS |
| nl | Syndroom van Townes-Brocks | Anusatresie - hand-, voet- en ooranomalieën-syndroom · REAR-syndroom · Renaal-oor-anaal-radiaal syndroom · Sensorineurale doofheid met anusatresie en hypoplastische duimen · Syndroom van Townes · TBS |
| pt | Síndrome Townes-Brocks | |
| pl | Zespół Townesa i Brocksa | = en |
| cs | Townesův-Brocksův syndrom | Neperforovaný anus s anomáliemi rukou, nohou a uší · REAR syndrom · Senzorineurální hluchota s neperforovaným anem a hypoplastickými palci · TBS · Syndrom postihující ledviny, uši, anus a vřetenní kost · Townesův syndrom · Townes-Brocksův syndrom |
| uk | Синдром Таунса-Брокса | Синдром аномалій анального отвору-руки, ноги та вуха · Синдром REAR · Нирково-вушно-анально-променевий синдром · Сенсоневральна глухота з імперфорацією ануса та гіпопластичними великими пальцями · Сенсоневральна приглухуватість з імперфорацією ануса та гіпопластичними великими пальцями · TBS · Синдром Таунса |
| zh | 汤-布综合征 | 感音神经性听力丧失伴肛门闭锁及拇指发育不全 |
| tr | Townes-Brocks sendromu | TBS · REAR sendromu · Townes sendromu · Böbrek-kulak-anal-radyal sendrom · Deliksiz anüs-el, ayak ve kulak anomalileri sendromu · Deliksiz anüs ve hipoplastik baş parmaklar ile seyreden sensörinöral sağırlık · Deliksiz anüs ve hipoplastik başparmak ile seyreden sensörinöral işitme kaybı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 107480 | BTNT | validated | |
| OMIM | 617466 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007142 | E | validated | |
| MeSH | C536974 | E | validated | |
| UMLS | C0265246 | E | validated | |
| GARD | 7784 | 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:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
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.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SALL1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10524 | ENSG00000103449 | 602218 | 16q12.1 | spalt like transcription factor 1 | 20301618[PMID] |
| DACT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17748 | ENSG00000165617 | 607861 | 14q23.1 | dishevelled binding antagonist of beta catenin 1 | 28054444[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.42 / 100 000 | Spain | Value and class | Validated | 10083645[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Not yet 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.
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HPO phenotypes
66 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0002023 | Anal atresia | |
| HP:0000384 | Preauricular skin tag | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0004792 | Rectoperineal fistula | |
| HP:0000143 | Rectovaginal fistula | |
| HP:0001199 | Triphalangeal thumb | |
| Frequent (79-30%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002019 | Constipation | |
| HP:0000028 | Cryptorchidism | |
| HP:0000365 | Hearing impairment | |
| HP:0008551 | Microtia | |
| HP:0000396 | Overfolded helix | |
| HP:0001763 | Pes planus | |
| HP:0000083 | Renal insufficiency | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0001863 | Toe clinodactyly | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001641 | Abnormal pulmonary valve morphology | |
| HP:0012210 | Abnormal renal morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0009912 | Abnormal tragus morphology | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0000130 | Abnormality of the uterus | |
| HP:0000142 | Abnormality of the vagina | |
| HP:0000504 | Abnormality of vision | |
| HP:0010760 | Absent toe | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0010331 | Aplasia/Hypoplasia of the 3rd toe | |
| HP:0001631 | Atrial septal defect | |
| HP:0000048 | Bifid scrotum | |
| HP:0000581 | Blepharophimosis | |
| HP:0002607 | Bowel incontinence | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0011304 | Broad thumb | |
| HP:0000518 | Cataract | |
| HP:0002308 | Chiari malformation | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0000823 | Delayed puberty | |
| HP:0000086 | Ectopic kidney | |
| HP:0000324 | Facial asymmetry | |
| HP:0001508 | Failure to thrive | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0000821 | Hypothyroidism | |
| HP:0001249 | Intellectual disability | |
| HP:0000612 | Iris coloboma | |
| HP:0001140 | Limbal dermoid | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0000568 | Microphthalmia | |
| HP:0005562 | Multiple renal cysts | |
| HP:0009944 | Partial duplication of thumb phalanx | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000089 | Renal hypoplasia | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001770 | Toe syndactyly | |
| HP:0009465 | Ulnar deviation of finger | |
| HP:0010481 | Urethral valve | |
| HP:0000076 | Vesicoureteral reflux | |
| HP:0000154 | Wide mouth | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/857
- This record as JSON: /data/d/857.json