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Townes syndrome(TBS)

MedGen UID:
75555
Concept ID:
C0265246
Congenital Abnormality
Synonyms: anal-ear-renal-radial malformation syndrome; Anus, imperforate, with hand, foot and ear anomalies; Deafness, sensorineural, with imperforate anus and hypoplastic thumbs; DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES; deafness-imperforate anus-hypoplastic thumbs syndrome; imperforate anus-hand and foot anomalies syndrome; Renal-ear-anal-radial syndrome; renal-ear-anal-radial syndrome (REAR); sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome; TBS; Townes-Brocks syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
SNOMED CT: Townes Brocks syndrome (24750000); Townes syndrome (24750000)
 
Gene: SALL1
Cytogenetic location: 16q12.1
OMIM: 107480

Disease characteristics

Excerpted from the GeneReview: Townes-Brocks Syndrome
Townes-Brocks syndrome (TBS) is characterized by the triad of imperforate anus (82%), dysplastic ears (88%) (overfolded superior helices and preauricular tags) frequently associated with sensorineural and/or conductive hearing impairment (65%), and thumb malformations (89%) (triphalangeal thumbs, duplication of the thumb (preaxial polydactyly), and rarely hypoplasia of the thumbs). Renal impairment (27%), including end-stage renal disease (ESRD) (42%), may occur with or without structural abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, polycystic kidneys, vesicoutereral reflux). Congenital heart disease occurs in 25%. Foot malformations (52%) (flat feet, overlapping toes) and genitourinary malformations (36%) are common. Intellectual disability occurs in approximately 10% of cases. Rare features include iris coloboma, Duane anomaly, Arnold-Chiari malformation type 1, and growth retardation. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Jürgen Kohlhase   view full author information

Additional description

From GHR
Townes-Brocks syndrome is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition have at least two of these three major features. Other possible signs and symptoms of Townes-Brocks syndrome include kidney abnormalities, mild to profound hearing loss, heart defects, and genital malformations. These features vary among affected individuals, even within the same family. Intellectual disability or learning problems have also been reported in about 10 percent of people with Townes-Brocks syndrome.  http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome

Clinical features

Multicystic kidney dysplasia
MedGen UID:
504299
Concept ID:
CN000004
Finding
Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Cryptorchidism
MedGen UID:
504309
Concept ID:
CN000029
Finding
Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis.
Hypospadias
MedGen UID:
504317
Concept ID:
CN000047
Finding
Displacement of the urethral opening on the ventral (inferior) surface of the penis.
Bifid scrotum
MedGen UID:
504318
Concept ID:
CN000048
Finding
Separation of the two halves of the scrotum, whereby commonly the 2 halves of the scrotum meet above the penis.
Renal insufficiency
MedGen UID:
427392
Concept ID:
CN000083
Finding
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Renal dysplasia
MedGen UID:
504345
Concept ID:
CN000108
Finding
The presence of `developmental dysplasia` (MPATH:64) of the `kidney` (FMA:7203).
Rectovaginal fistula
MedGen UID:
504363
Concept ID:
CN000139
Finding
The presence of a `fistula` (MPATH:70) between the `vagina` (FMA:19949) and the `rectum` (FMA:14544).
Rectoperineal fistula
MedGen UID:
505687
Concept ID:
CN004240
Finding
The presence of a `fistula` (MPATH:70) between the `perineum` (FMA:9579) and the `rectum` (FMA:14544).
Urethral valve
MedGen UID:
426723
Concept ID:
CN009312
Finding
The presence of an abnormal membrane obstructing the `urethra` (FMA:19667).
Abnormal localization of kidney
MedGen UID:
451874
Concept ID:
CN117435
Finding
An abnormal site of the `kidney` (FMA:7203).
Urogenital fistula
MedGen UID:
506491
Concept ID:
CN117482
Finding
The presence of a `fistula` (MPATH:70) affecting the `genitourinary system` (FMA:280610).
Displacement of the external urethral meatus
MedGen UID:
451918
Concept ID:
CN117519
Finding
A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina).
Wide mouth
MedGen UID:
504368
Concept ID:
CN000150
Finding
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Facial asymmetry
MedGen UID:
504421
Concept ID:
CN000304
Finding
An abnormal difference between the left and right sides of the face.
Blepharophimosis
MedGen UID:
504508
Concept ID:
CN000545
Finding
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Visual impairment
MedGen UID:
504469
Concept ID:
CN000473
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Chorioretinal coloboma
MedGen UID:
504500
Concept ID:
CN000532
Finding
Absence of a region of the retina, retinal pigment epithelium, and choroid.
Iris coloboma
MedGen UID:
504523
Concept ID:
CN000574
Finding
A `coloboma` (HP:0000589) of the `iris` (FMA:58235).
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605).
Preauricular skin tag
MedGen UID:
504427
Concept ID:
CN000359
Finding
A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear).
Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of `hearing impairment` (HP:0000365) in one or both ears related to an `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `cochlear nerve` (FMA:53431).
External ear malformation
MedGen UID:
506236
Concept ID:
CN007542
Finding
A malformation of the `auricle of the ear` (FMA:56580).
Abnormality of the tragus
MedGen UID:
447145
Concept ID:
CN008750
Finding
An abnormality of the `tragus` (FMA:60998).
Stahl ear
MedGen UID:
451410
Concept ID:
CN116914
Finding
The presence of a `supernumerary` (PATO:0002002), i.e. third, `crus of the helix (FMA:61024) in the `helix` (FMA:60992), arising at or above the normal bifurcation of the antihelix.
Aplasia/Hypoplasia of the corpus callosum
MedGen UID:
425895
Concept ID:
CN006451
Finding
Absence or underdevelopment of the `corpus callosum` (FMA:86464).
Abnormality of the ribs
MedGen UID:
427835
Concept ID:
CN000726
Finding
An anomaly of the `rib` (FMA:7574).
Preaxial hand polydactyly
MedGen UID:
428248
Concept ID:
CN001102
Finding
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Pes planus
MedGen UID:
427894
Concept ID:
CN001603
Finding
A foot where the `plantar arch` (FMA:43942) is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Toe syndactyly
MedGen UID:
504947
Concept ID:
CN001609
Finding
Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \
Camptodactyly of toe
MedGen UID:
504966
Concept ID:
CN001661
Finding
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Split foot
MedGen UID:
504969
Concept ID:
CN001664
Finding
A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet.
Preaxial foot polydactyly
MedGen UID:
504971
Concept ID:
CN001666
Finding
Duplication of all or part of the first ray.
Clinodactyly of the 5th finger
MedGen UID:
425227
Concept ID:
CN003724
Finding
Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger).
Partial duplication of thumb phalanx
MedGen UID:
429885
Concept ID:
CN008782
Finding
A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones.
2-4 finger syndactyly
MedGen UID:
429612
Concept ID:
CN009535
Finding
`Syndactyly` (HP:0001159) with fusion of the fingers two to four.
Lower limb asymmetry
MedGen UID:
451882
Concept ID:
CN117452
Finding
A difference in length or diameter between the left and right leg.
Rectovaginal fistula
MedGen UID:
504363
Concept ID:
CN000139
Finding
The presence of a `fistula` (MPATH:70) between the `vagina` (FMA:19949) and the `rectum` (FMA:14544).
Gastroesophageal reflux
MedGen UID:
505057
Concept ID:
CN001828
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
Anal atresia
MedGen UID:
505058
Concept ID:
CN001831
Finding
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Anal stenosis
MedGen UID:
505059
Concept ID:
CN001833
Finding
Abnormal narrowing of the anal opening.
Duodenal atresia
MedGen UID:
505168
Concept ID:
CN002038
Finding
A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.
Bowel incontinence
MedGen UID:
428303
Concept ID:
CN002369
Finding
Involuntary fecal soiling in adults and children who have usually already been toilet trained.
Ectopic anus
MedGen UID:
505626
Concept ID:
CN003895
Finding
Abnormal displacement or malposition of the anus.
Rectoperineal fistula
MedGen UID:
505687
Concept ID:
CN004240
Finding
The presence of a `fistula` (MPATH:70) between the `perineum` (FMA:9579) and the `rectum` (FMA:14544).
Lower limb asymmetry
MedGen UID:
451882
Concept ID:
CN117452
Finding
A difference in length or diameter between the left and right leg.
Preauricular skin tag
MedGen UID:
504427
Concept ID:
CN000359
Finding
A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear).
Defect in the atrial septum
MedGen UID:
504879
Concept ID:
CN001485
Finding
Atrial septal defect (ASD) is a congenital abnormality of the `interatrial septum` (FMA:7108) that enables blood flow between the left and right atria via the interatrial septum.
Tetralogy of Fallot
MedGen UID:
504882
Concept ID:
CN001489
Finding
A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.
Abnormality of the pulmonary valve
MedGen UID:
425064
Concept ID:
CN001494
Finding
An abnormality of the `pulmonary valve` (FMA:7246).
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Camptodactyly of toe
MedGen UID:
504966
Concept ID:
CN001661
Finding
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.
Camptodactyly of toe
MedGen UID:
504966
Concept ID:
CN001661
Finding
Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGTownes syndrome

Recent clinical studies

Etiology

Hall JW 3rd, Prentice CH, Smiley G, Werkhaven J
J Am Acad Audiol 1995 Jan;6(1):80-92. PMID: 7696681
Hersh JH, Jaworski M, Solinger RE, Weisskopf B, Donat J
Clin Pediatr (Phila) 1986 Feb;25(2):100-2. PMID: 3943255

Diagnosis

Hall JW 3rd, Prentice CH, Smiley G, Werkhaven J
J Am Acad Audiol 1995 Jan;6(1):80-92. PMID: 7696681
Hersh JH, Jaworski M, Solinger RE, Weisskopf B, Donat J
Clin Pediatr (Phila) 1986 Feb;25(2):100-2. PMID: 3943255

Prognosis

Miura M, Sando I, Hirsch BE, Orita Y
Int J Pediatr Otorhinolaryngol 2002 Jul 9;64(3):207-16. PMID: 12090948

Clinical prediction guides

Miura M, Sando I, Hirsch BE, Orita Y
Int J Pediatr Otorhinolaryngol 2002 Jul 9;64(3):207-16. PMID: 12090948

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