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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/28 08:25:32」(JST)

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Arachnodactyly ("spider fingers") or achromachia, is a condition in which the fingers are abnormally long and slender in comparison to the palm of the hand. It can be present at birth or develop in later life.^{[citation needed]}.

Causes

This feature can occur on its own, with no underlying health problems. However, it can also be associated with certain medical conditions. Examples include Marfan syndrome,^[1] Ehlers-Danlos syndrome,^[2] Loeys–Dietz syndrome and homocystinuria.

Arachnodactyly has been linked to mutations in both fibrillin-1 and fibrillin-2 genes.

Notable cases

It remains unconfirmed whether composer Sergei Rachmaninoff's abnormally large reach on a piano was a result of arachnodactyly due to Marfan syndrome, as the pianist exhibited no other signs of the disease.^[3]

References

^ Buntinx, I. M.; Willems, P. J.; Spitaels, S. E.; Van Reempst, P. J.; De Paepe, A. M.; Dumon, J. E. (April 1991). "Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency". Journal of Medical Genetics 28 (4): 267–273. doi:10.1136/jmg.28.4.267. ISSN 0022-2593. PMC 1016831. PMID 1856834. edit
^ Keer, Rosemary; Grahame, Rodney (2003-06-27). "Hypermobility syndrome: Recognition and management for physiotherapists". ISBN 978-0-7506-5390-9.
^ http://www.rachmaninoff.org/board/viewtopic.php?f=5&t=480

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UpToDate Contents

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1. マルファン症候群および関連疾患の遺伝学、臨床的特徴、および診断 genetics clinical features and diagnosis of marfan syndrome and related disorders
2. 過剰可動性症候群の臨床症状および治療 clinical manifestations and treatment of the hypermobility syndrome
3. 小児における水晶体偏位（水晶体脱臼） ectopia lentis dislocated lens in children
4. 高身長または異常に急激な成長がみられる小児 the child with tall stature or abnormally rapid growth
5. アスリートにおける心突然死のリスク risk of sudden cardiac death in athletes

English Journal

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.

Rainger JK, Bhatia S, Bengani H, Gautier P, Rainger J, Pearson M, Ansari M, Crow J, Mehendale F, Palinkasova B, Dixon MJ, Thompson PJ, Matarin M, Sisodiya SM, Kleinjan DA, Fitzpatrick DR.Author information MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.AbstractHeterozygous loss-of-function (LOF) mutations in the gene encoding the DNA-binding protein, SATB2, result in micrognathia and cleft palate in both humans and mice. In three unrelated individuals, we show that translocation breakpoints (BPs) up to 896 kb 3' of SATB2 polyadenylation site cause a phenotype which is indistinguishable from that caused by SATB2 LOF mutations. This syndrome comprises long nose, small mouth, micrognathia, cleft palate, arachnodactyly and intellectual disability. These BPs map to a gene desert between PLCL1 and SATB2. We identified three putative cis-regulatory elements (CRE1-3) using a comparative genomic approach each of which would be placed in trans relative to SATB2 by all three BPs. CRE1-3 each bind p300 and mono-methylated H3K4 consistent with enhancer function. In silico analysis suggested that CRE1-3 contain one or more conserved SOX9-binding sites, and this binding was confirmed using chromatin immunoprecipitation on cells derived from mouse embryonic pharyngeal arch. Interphase bacterial artificial chromosome fluorescence in situ hybridization measurements in embryonic craniofacial tissues showed that the orthologous region in mice exhibits Satb2 expression-dependent chromatin decondensation consistent with Satb2 being a target gene of CRE1-3. To assess their in vivo function, we made multiple stable reporter transgenic lines for each enhancer in zebrafish. CRE2 was shown to drive SATB2-like expression in the embryonic craniofacial region. This expression could be eliminated by mutating the SOX9-binding site of CRE2. These observations suggest that SATB2 and SOX9 may be acting together via complex cis-regulation to coordinate the growth of the developing jaw.
Human molecular genetics.Hum Mol Genet.2014 Jan 20. [Epub ahead of print]
Heterozygous loss-of-function (LOF) mutations in the gene encoding the DNA-binding protein, SATB2, result in micrognathia and cleft palate in both humans and mice. In three unrelated individuals, we show that translocation breakpoints (BPs) up to 896 kb 3' of SATB2 polyadenylation site cause a pheno
PMID 24363063

Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 gene.

Fontana P1, Genesio R2, Casertano A3, Cappuccio G3, Mormile A2, Nitsch L2, Iolascon A2, Andria G3, Melis D3.Author information 1Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy. Electronic address: Sibusiso.fontana@gmail.com.2Department of Molecular Medicine and Medical Biotechnology, Federico II University, Naples, Italy.3Department of Translational Medical Sciences, Division of Pediatrics, Federico II University, Naples, Italy.AbstractThe TGF-β signaling pathway controls cellular proliferation, growth and differentiation and regulates several functions of the connective tissue. Disruption of genes coding for components of the TGF-β signaling pathway or its interactors, such as fibrillin-1, has been shown to cause several human pathologies. Large deletions and non-sense mutations in TGFB2 gene have been recently described in patients with aortic aneurysm, scoliosis, arachnodactyly, chest deformities, joint hyper-flexibility, and mild intellectual disability; this condition has been called Loeys-Dietz syndrome, type 4. In this paper we describe an 18-year-old girl with borderline mental impairment, seizures, retinal degeneration, short stature, congenital hip dysplasia, severe and worsening joint hypermobility, scoliosis, progressive deformation of the long bones, aortic dilatation and platelet disorder. Molecular study of DNA by Array-CGH demonstrated four de novo microdeletions: TGFB2 is among the genes deleted and we consider it the obvious candidate for the clinical phenotype. The multiple chromosomal rearrangements detected in the current patient can be ascribed to an event of constitutional chromothripsis.
Gene.Gene.2014 Jan 15. pii: S0378-1119(14)00038-9. doi: 10.1016/j.gene.2014.01.017. [Epub ahead of print]
The TGF-β signaling pathway controls cellular proliferation, growth and differentiation and regulates several functions of the connective tissue. Disruption of genes coding for components of the TGF-β signaling pathway or its interactors, such as fibrillin-1, has been shown to cause several human
PMID 24440784

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

Thevenon J, Callier P, Poquet H, Bache I, Menten B, Malan V, Cavaliere ML, Girod JP, Thauvin-Robinet C, El Chehadeh S, Pinoit JM, Huet F, Verges B, Petit JM, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Novelli A, Tümer Z, Loeys B, Lyonnet S, Faivre L.Author information Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHU de Dijon, Dijon, France.AbstractBACKGROUND: Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions.
Journal of medical genetics.J Med Genet.2014 Jan;51(1):21-7. doi: 10.1136/jmedgenet-2013-101939. Epub 2013 Oct 16.
BACKGROUND: Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions.METHODS: We report for the first time seven pa
PMID 24133203

Japanese Journal

Le Fort I 型骨切り術および下顎枝矢状分割術を施行した Marfan 症候群の1例

関根亜理紗,藤田佳子,桑山真寧,秋元善次,高野正行,柿澤卓
日本口腔外科学会雑誌 53(9), 563-567, 2007-09-20
… It is characterized by arachnodactyly, aortic incompetence, mitral valve prolapse, and dissecting aneurysm throughout the body. …
NAID 10020114666