タウンズ・ブロックス症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
- United States physicist who developed the laser and maser principles for producing high-intensity radiation (1915-) (同)Charles Townes, Charles Hard Townes
- United States architect who was noted for his design and construction of truss bridges (1784-1844) (同)Ithiel Town
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/07/31 18:03:41」(JST)
[Wiki en表示]
| Townes–Brocks syndrome |
| Classification and external resources |
| ICD-10 |
Q87.8 |
| OMIM |
107480 |
| DiseasesDB |
32163 |
Townes–Brocks syndrome[1] (TBS) is a rare genetic disease that affects fewer than 200 people in the entire world.[2] It affects both males and females equally.[3] The condition was first identified in 1972.[3]
Contents
- 1 Symptoms
- 2 Causes
- 3 External links
- 4 Notes
Symptoms[edit]
TBS sufferers may have the following symptoms:[4]
- Abnormalities of the external ears (unusually large or small, unusually shaped, sometimes with sensorineural hearing loss or deafness due to lesions or dysfunctions of part of the internal ear or its nerve tracts and centers or conductive hearing loss from the external or middle ear), dysplastic ears, lop ear (over-folded ear helix), preauricular tags or pits (a rudimentary tag of ear tissue typically located just in front of the ear).
- Anorectal malformations, including imperforate anus/absence of an anal opening, rectovaginal fistula, anal stenosis, unusually placed anus.
- Renal abnormalities, sometimes leading to impaired renal function or renal failure, including hypoplastic kidneys (underdeveloped), multicystic kidneys, dyspastic kidneys.
- Heart abnormalities, including tetralogy of fallot and defects of the ventricular septum.
- Hand and foot abnormalities, such as hypoplastic thumbs, fingerlike thumbs, syndactyly (webbed fingers/toes), fusion of the wrist bones, overlapping foot and/or toe bones.
Learning difficulties have been reported in some children with TBS. For others, intelligence is within the normal range.
These abnormalities, which are present prenatally, can range from minor to severe, and as with similar disorders, most individuals with this condition have some, but not all, of these traits.
Causes[edit]
TBS is an autosomal dominant involving the a mutation of the gene SALL1, which encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin. The clinical features of TBS overlap with VATER and VACTERL associations, oculo-auriculo-vertebral (OAV) spectrum, branchio-oto-renal (BOR) syndrome, and Fanconi anemia and other 'anus-hand-ear' syndromes.[5]
Although some symptoms can be life-threatening, many people diagnosed with Townes-Brocks Syndrome live a normal lifespan.[3]
External links[edit]
- GeneReview/NCBI/NIH/UW entry on Townes-Brocks Syndrome
Notes[edit]
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 894. ISBN 1-4160-2999-0.
- ^ Faces of Children
- ^ a b c Contact a Family
- ^ National Organization for Rare Diseases
- ^ GeneDX
|
Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies
|
|
| (1) Basic domains |
1.2: Feingold syndrome · Saethre–Chotzen syndrome
1.3: Tietz syndrome
|
|
(2) Zinc finger
DNA-binding domains |
2.1 (Intracellular receptor): Thyroid hormone resistance · Androgen insensitivity syndrome (PAIS, MAIS, CAIS) · Kennedy's disease · PHA1AD pseudohypoaldosteronism · Estrogen insensitivity syndrome · X-linked adrenal hypoplasia congenita · MODY 1 · Familial partial lipodystrophy 3 · SF1 XY gonadal dysgenesis
2.2: Barakat syndrome · Tricho–rhino–phalangeal syndrome
2.3: Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome · Denys–Drash syndrome · Duane-radial ray syndrome · MODY 7 · MRX 89 · Townes–Brocks syndrome · Acrocallosal syndrome · Myotonic dystrophy 2
2.5: Autoimmune polyendocrine syndrome type 1
|
|
| (3) Helix-turn-helix domains |
3.1: ARX (Ohtahara syndrome, Lissencephaly X2) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (MODY 4) · LMX1B (Nail–patella syndrome) · MSX1 (Tooth and nail syndrome, OFC5) · PITX2 (Axenfeld syndrome 1) · POU4F3 (DFNA15) · POU3F4 (DFNX2) · ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) · ZEB2 (Mowat–Wilson syndrome)
3.2: PAX2 (Papillorenal syndrome) · PAX3 (Waardenburg syndrome 1&3) · PAX4 (MODY 9) · PAX6 (Gillespie syndrome, Coloboma of optic nerve) · PAX8 (Congenital hypothyroidism 2) · PAX9 (STHAG3)
3.3: FOXC1 (Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type) · FOXC2 (Lymphedema–distichiasis syndrome) · FOXE1 (Bamforth–Lazarus syndrome) · FOXE3 (Anterior segment mesenchymal dysgenesis) · FOXF1 (ACD/MPV) · FOXI1 (Enlarged vestibular aqueduct) · FOXL2 (Premature ovarian failure 3) · FOXP3 (IPEX)
3.5: IRF6 (Van der Woude syndrome, Popliteal pterygium syndrome)
|
|
(4) β-Scaffold factors
with minor groove contacts |
4.2: Hyperimmunoglobulin E syndrome
4.3: Holt–Oram syndrome · Li–Fraumeni syndrome · Ulnar–mammary syndrome
4.7: Campomelic dysplasia · MODY 3 · MODY 5 · SF1 (SRY XY gonadal dysgenesis, Premature ovarian failure 7) · SOX10 (Waardenburg syndrome 4c, Yemenite deaf-blind hypopigmentation syndrome)
4.11: Cleidocranial dysostosis
|
|
| (0) Other transcription factors |
0.6: Kabuki syndrome
|
|
| Ungrouped |
TCF4 (Pitt–Hopkins syndrome) · ZFP57 (TNDM1) · TP63 (Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8)
|
|
| Transcription coregulators |
coactivator: CREBBP (Rubinstein–Taybi syndrome)
corepressor: HR (Atrichia with papular lesions)
|
|
see also transcription factors
- B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
- DNA/RNA/protein synthesis
- membrane
- transduction
- trfk
|
|
UpToDate Contents
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English Journal
- Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome.
- Eker HK1, Balasar Ö.
- Clinical dysmorphology.Clin Dysmorphol.2015 Jan;24(1):24-5. doi: 10.1097/MCD.0000000000000054.
- PMID 25192472
- Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA.
- Sanchez-Jimeno C1, Bustamante-Aragonés A2, Infantes-Barbero F1, Rodriguez De Alba M2, Ramos C2, Trujillo-Tiebas MJ2, Lorda-Sánchez I2.
- Clinical case reports.Clin Case Rep.2014 Dec;2(6):303-9. doi: 10.1002/ccr3.117. Epub 2014 Sep 15.
- KEY CLINICAL MEASSAGE: Patients with rare deletions in 16q12 and a duplication of 17p, both interstitial and de novo. Only seven cases have been described with these deletions and none of them presented other chromosomal abnormalities. The proband showed a complex phenotype with features found in pa
- PMID 25548634
- Review of accessory tragus with highlights of its associated syndromes.
- Bahrani B1, Khachemoune A.
- International journal of dermatology.Int J Dermatol.2014 Dec;53(12):1442-6. doi: 10.1111/ijd.12369. Epub 2014 Sep 30.
- Accessory tragus is a developmental defect involving malformation of part of the external ear. It is a moderately rare congenital condition reported in 1858 by Birkett for the first time. Histological features of accessory tragus include a thin layer of stratum corneum with a rugated epidermis, pres
- PMID 25266223
Japanese Journal
- Phenotypic variability in a family with Townes-Brocks syndrome
- 人工内耳埋め込み術を行った Townes-Brocks 症候群の1例
Related Links
- 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 ...
- 3 May 2012 ... 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 ...
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