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Disease Profile
Townes-Brocks syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 1 000 000
Age of onset
All ages
ICD-10
Q87.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
TBS; Renal-ear-anal-radial syndrome; REAR syndrome;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases;
Summary
Townes-Brocks
Symptoms
- Imperforate anus (84% of the cases)
- Abnormally shaped ears (87% of the cases)
- Thumb malformations (89% of the cases) such as triphalangeal thumbs (when a thumb has 3 bones instead of 2 bones),
duplication of the thumb (two tumbs), and rarely, very small thumbs).
Most people with this condition have at least two of these three major features.[1]
Other frequent findings include:[1]
- Hearing problems
- Kidney problems (such as end-stage
renal disease (ESRD), which may occur with or without kidney malformations (malrotation, abnormal position (ectopia), abnormal shape (horseshoe kidney), small size (renal hypoplasia), multiple cysts in the kidney (polycystic kidneys), or vesicoutereral reflux). Congenital heart disease- Foot malformations (flat feet, overlapping toes)
- Genital or urinary malformations
Intellectual disability .
Rare features include eye anomalies (a defect on the iris of the eye (iris coloboma), or an eye movement disorder known as Duane anomaly), Arnold-Chiari malformation type 1, and growth delay.
Visit GeneReviews for more detailed information about the signs and symptoms of Townes-Brocks syndrome.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
||
---|---|---|---|---|
80%-99% of people have these symptoms | ||||
Anal atresia |
Absent anus
|
0002023 | ||
External ear malformation | 0008572 | |||
Preauricular skin tag | 0000384 | |||
Preaxial hand |
Extra thumb
|
0001177 | ||
Rectoperineal fistula | 0004792 | |||
Rectovaginal fistula |
Abnormal connection between rectum and vagina
|
0000143 | ||
Triphalangeal thumb |
Finger-like thumb
|
0001199 | ||
30%-79% of people have these symptoms | ||||
Anteriorly placed anus | 0001545 | |||
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 | ||
Constipation | 0002019 | |||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | ||
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 | ||
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 | ||
Overfolded helix |
Overfolded ears
|
0000396 | ||
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 | ||
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 | ||
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 | ||
Toe clinodactyly | 0001863 | |||
5%-29% of people have these symptoms | ||||
Abnormal pulmonary valve morphology | 0001641 | |||
Abnormal vertebral morphology | 0003468 | |||
Abnormality of the ribs |
Rib abnormalities
|
0000772 | ||
Abnormality of the tragus | 0009912 | |||
Abnormality of the uterus |
Uterine abnormalities
Uterine malformations
[ more ] |
0000130 | ||
Abnormality of vision |
Abnormality of sight
Vision issue
[ more ] |
0000504 | ||
Agenesis of |
0001274 | |||
Aplasia/Hypoplasia of the 3rd toe |
Absent/small 3rd toe
Absent/underdeveloped 3rd toe
[ more ] |
0010331 | ||
Arnold-Chiari malformation | 0002308 | |||
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 | ||
Bifid scrotum |
Cleft of scrotum
|
0000048 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 | ||
Bowel incontinence |
Loss of bowel control
|
0002607 | ||
Broad hallux phalanx |
Broad bone of big toe
Wide bone of big toe
[ more ] |
0010059 | ||
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |||
Chorioretinal coloboma |
Birth defect that causes a hole in the innermost layer at the back of the eye
|
0000567 | ||
Cranial nerve paralysis | 0006824 | |||
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 | ||
Duane anomaly | 0009921 | |||
Ectopic kidney |
Abnormal kidney location
Displaced kidney
[ more ] |
0000086 | ||
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 | ||
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 | ||
Hypoplasia of penis |
Underdeveloped penis
|
0008736 | ||
Hypospadias | 0000047 | |||
Hypothyroidism |
Underactive thyroid
|
0000821 | ||
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | ||
Iris coloboma |
Cat eye
|
0000612 | ||
Limbal dermoid | 0001140 | |||
Lower limb asymmetry |
Left and right leg differ in length or width
|
0100559 | ||
Microphthalmia |
Abnormally small eyeball
|
0000568 | ||
Multiple renal cysts |
Multiple kidney cysts
|
0005562 | ||
Partial duplication of thumb phalanx |
Partial duplication of the thumb bones
|
0009944 | ||
Patent ductus arteriosus | 0001643 | |||
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ] |
0000089 | ||
Decreased body height
Small stature
[ more ] |
0004322
Cause Townes-Brocks
DiagnosisTownes-Brocks
If only two major features are present, the presence of minor features and the absence of atypical features further support the diagnosis:[2] Minor features:
Atypical features (not suggestive of the syndrome):
A genetic test identifying a
Testing Resources
Treatment Treatment is directed towards the specific symptoms, including immediate surgical intervention for imperforate anus, surgery for severe malformations of the thumbs, and early treatment of
routine management of Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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