Coffin-Siris syndrome

コフィン・シィリス症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"
3. place into a coffin; "her body was coffined"
4. box in which a corpse is buried or cremated (同)casket
5. large spreading Old World tree having large leaves and globose clusters of greenish-yellow flowers and long seed pods that clatter in the wind (同)siris tree, Albizia lebbeck, Albizzia lebbeck
6. a title used before the name of knight or baronet

PrepTutorEJDIC

1. (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
2. 『棺』,ひつぎ

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/08/12 21:06:11」(JST)

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Coffin–Siris syndrome
Classification and external resources
OMIM	135900
DiseasesDB	32018

Coffin–Siris Syndrome is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails.

Synonyms include Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Mental Retardation with Hypoplastic 5th Fingernails and Toenails, and Short Stature-Onychodysplasia.

There had been 31 reported cases by 1991. The numbers of occurrence since then has grown and is reported to be around 80.

The differential includes Nicolaides–Baraitser syndrome.

Characteristics

• mild to severe intellectual disability, also called "developmental disability"
• short fifth digits with hypoplastic or absent nails
• low birth weight
• feeding difficulties upon birth
• frequent respiratory infections during infancy
• hypotonia
• joint laxity
• delayed bone age
• microcephaly
• coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes

Causes

Autosomal recessive inheritance is the most likely, but sporadic mutations and autosomal dominant cases may also occur.

This syndrome has been associated with mutations in the ARID1B gene.

Mutations in SOX11 are associated to this syndrome.

References

External links

• Coffin–Siris syndrome on Orphanet
• Coffin–Siris at WebMD
• synd/3426 at Who Named It?
• Cof

UpToDate Contents

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English Journal

• Evf2 lncRNA/BRG1/DLX1 interactions reveal RNA-dependent chromatin remodeling inhibition.

• Cajigas I1, Leib DE1, Cochrane J2, Luo H1, Swyter K1, Chen S1, Clark BS1, Thompson J3, Yates JR 3rd3, Kingston RE2, Kohtz JD4.
• Development (Cambridge, England).Development.2015 Jul 2. pii: dev.126318. [Epub ahead of print]
• Transcription-regulating long non-coding RNAs (lncRNAs) have the potential to control site-specific gene expression of thousands of targets. Previously, we showed that Evf2, the first described ultraconserved lncRNA, increases association of transcriptional activators (DLX homeodomain proteins) to k
• PMID 26138476

• Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

• Bramswig NC1, Lüdecke HJ, Alanay Y, Albrecht B, Barthelmie A, Boduroglu K, Braunholz D, Caliebe A, Chrzanowska KH, Czeschik JC, Endele S, Graf E, Guillén-Navarro E, Kiper PÖ, López-González V, Parenti I, Pozojevic J, Utine GE, Wieland T, Kaiser FJ, Wollnik B, Strom TM, Wieczorek D.
• Human genetics.Hum Genet.2015 Jun;134(6):553-68. doi: 10.1007/s00439-015-1535-8. Epub 2015 Feb 28.
• Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NCBRS) are rare intellectual disability/congenital malformation syndromes that represent distinct entities but show considerable clinical overlap. They are caused by mutations in genes encoding members of the BRG1- and BRM-associated fac
• PMID 25724810

• 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting.

• Braddock SR1, Lipinski RJ2, Williams MS3, Carey JC4.
• American journal of medical genetics. Part A.Am J Med Genet A.2015 May 22. doi: 10.1002/ajmg.a.37107. [Epub ahead of print]
• The 35th Annual David W Smith Workshop on Malformations and Morphogenesis was held on July 25-30, 2014 at the University of Wisconsin, Madison, Wisconsin. The conference, which honors the legacy of David Smith, brought together over 130 clinicians and researchers interested in congenital malformatio
• PMID 26010070

Japanese Journal

• 挿管困難が予想された Coffin-Siris 症候群の口腔外科手術時の麻酔経験

• 舩田 安希,篠崎 未緒,濱口 眞輔,北島 敏光,今井 裕
• 日本歯科麻酔学会雑誌 37(3), 299-300, 2009-07-15
• NAID 10025694449

• Coffin-Siris 症候群患者の歯科治療時の全身麻酔経験

• 舘野 健,武藤 理香,水戸野 裕之,深山 治久
• 日本歯科麻酔学会雑誌 37(2), 195-196, 2009-04-15
• NAID 10025694162

Related Links

• Coffin–Siris syndrome - Wikipedia, the free encyclopedia

Coffin–Siris Syndrome is a rare genetic disorder which causes developmental delays and absent fifth finger and toe nails. Synonyms include Dwarfism- Onychodysplasia, Fifth Digit Syndrome, Mental Retardation with Hypoplastic 5th ...

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リンク元	「コフィン・シィリス症候群」
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英

Coffin-Siris syndrome

同

コフィン-シィリス症候群

• 奇形症候群の一つ。

参考

フリーpdf有り

• The Coffin-Siris syndrome.

• Qazi QH, Heckman LS, Markouizos D, Verma RS.
• We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficulties. There was decreased fetal activity and intrauterine growth retardation.
• J Med Genet. 1990 May;27(5):333-6.
• PMID 2352263

• Coffin-Siris syndrome.

• Levy P, Baraitser M.
• J Med Genet. 1991 May;28(5):338-41.
• PMID 1865473

「syndrome」

　　[★]

• n.

• 症候群