WordNet

birth defect in which there is partial or total webbing connecting two or more fingers or toes (同)syndactylism

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/04 22:29:58」(JST)

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Syndactyly (from Greek συν- meaning "together" and δακτυλος meaning "finger") is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and kangaroo, but is an unusual condition in humans..

Classification

Syndactyly can be simple or complex.

In simple syndactyly, adjacent fingers or toes are joined by soft tissue.
In complex syndactyly, the bones of adjacent digits are fused. The kangaroo exhibits complex syndactyly.

Partial simple syndactyly of the 2nd and 3rd toe

Radiograph of Type 1 syndactyly of the hands

Syndactyly can be complete or incomplete.

In complete syndactyly, the skin is joined all the way to the tip of the finger
In incomplete syndactyly, the skin is only joined part of the distance to the fingertip.

Complex syndactyly occurs as part of a syndrome (such as Apert syndrome) and typically involves more digits than simple syndactyly.

The hand of a person with Greig cephalopolysyndactyly with syndactyly of several digits.

Fenestrated syndactyly means the skin is joined for most of the digit but in a proximal area there is gap in the syndactyly with normal skin. This type of syndactyly is found in amniotic band syndrome.

Simple syndactyly can be full or partial, and is present at birth (congenital). In early human fetal development, webbing (syndactyly) of the toes and fingers is normal. At about 16 weeks of gestation, apoptosis takes place and an enzyme dissolves the tissue between the fingers and toes, and the webbing disappears. In some fetuses, this process does not occur completely between all fingers or toes and some residual webbing remains.

Genetics

Five types^[1] of syndactyly have been identified in humans. The corresponding loci associated with these types and their common phenotypical expression are as follows:

type I: 2q34-q36;^[2] webbing occurs between middle and ring fingers and/or second and third toes.
type II: 2q31;^[3] also involves long and ring fingers, but has a sixth finger merged in between.
type III: 6q21-q23; small finger is merged into the ring finger.
type IV: 7q36;^[4] involves all fingers and/or toes
type V: 2q31-q32; similar to type I, but the metacarpals and metatarsals may also be fused.

Treatment

4-year-old boy's right hand, after surgery to rectify complete complex syndactyly of middle and ring finger. Bone had been joined at tips of fingers, together with fingernails, prior to corrective procedure. Surgery was conducted at 9 months of age. Note webbing "creep", and scar tissue, for which corrective surgery is due when boy is approximately 6 years of age.

Timing

Syndactyly of the border digits (thumb/ index finger or ring/ small fingers) is treated at early age to prevent the larger digit from curving towards the smaller digit with growth. Typically, syndactyly of these digits is treated at 6 months of age. The treatment of syndactyly of the other digits is elective and is more commonly performed when the digits have grown, at 18– 24 months of age.

Techniques

Because the circumference of the conjoined fingers is smaller than the circumference of the 2 separated fingers, there is not enough skin to cover both digits once they are separated at the time of surgery. Therefore, the surgeon must bring new skin into the area at the time of surgery. This is most commonly done with a skin graft (from groin or anterior elbow). Skin can also be used from the back of the hand by mobilizing it (called a "graftless" syndactyly correction), which requires planning over a period of months prior to surgery.

Complications

The most common problem with syndactyly correction is creeping of the skin towards the fingertip over time. This is likely due to tension at the site of the repair between the digits. Additional surgery may be required to correct this. One critique of using skin grafts is that the grafts darken in the years after surgery and become more noticeable. Also, if the skin grafts are harvested from the groin area, the skin may grow hair. Finally, the fingers may deviate after surgery. This is most commonly seen in complex syndactyly (when there has been a bony joining of the fingers).

History

The earliest appreciation of syndactyly as a birth anomaly or burn-trauma can be traced back to the Andalusian Muslim surgeon Al-Zahrawi (d. 1013 CE), known in the West as Abulcasis. Ambroise Paré also described syndactyly in the sixteenth century.^[5]

See Organizations

The National Foundation for Syndactyly, Research, Support, and Education (www.nfsus.org) is a not-for-profit organization founded in 2010 to raise funding for research, family support, and education about Syndactyly and related congenital birth defects.

References

^ Flatt A (1 January 2005). "Webbed fingers". Proceedings (Baylor University. Medical Center) 18 (1): 26–37. PMC 1200697. PMID 16200145.
^ Bosse K, Betz RC, Lee YA et al. (2000). "Localization of a Gene for Syndactyly Type 1 to Chromosome 2q34-q36". Am. J. Hum. Genet. 67 (2): 492–7. doi:10.1086/303028. PMC 1287194. PMID 10877983.
^ Sarfarazi, Akarsu et al. (1995). "Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker" (PDF). Hum. Mol. Genet. 4 (8): 1453–8. doi:10.1093/hmg/4.8.1453. PMID 7581388.
^ Sato D, Liang D, Wu L et al. (2007). "A syndactyly type IV locus maps to 7q36". Journal of Human Genetics 52 (6): 561–4. doi:10.1007/s10038-007-0150-5. PMID 17476456.
^ Malik, Sajid (15 February 2012). "Syndactyly: phenotypes, genetics and current classification". European Journal of Human Genetics. doi:10.1038/ejhg.2012.14.

UpToDate Contents

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1. 新生児の評価 assessment of the newborn infant
2. 先天性奇形に対するアプローチ approach to congenital malformations
3. 先天性QT延長症候群の臨床的特徴 clinical features of congenital long qt syndrome
4. 頭蓋骨縫合早期癒合症候群 craniosynostosis syndromes
5. ナイミーヘン染色体不安定症候群 nijmegen breakage syndrome

English Journal

The Amniotic Band Syndrome in the Rat Is Associated with the Activation of Transforming Growth Factor-β.

Romero-Valdovinos M1, Galván-Montaño A2, Olivo-Díaz A1, Maravilla P3, Bobadilla NA4, Vadillo-Ortega F5, Flisser A6.
The American journal of pathology.Am J Pathol.2015 Aug;185(8):2076-82. doi: 10.1016/j.ajpath.2015.04.006. Epub 2015 Jun 6.
Amniocentesis in rats is associated with different malformations, such as cleft palate and limb deformation, resembling the human congenital amniotic band syndrome (ABS). Despite many human cases reported in the literature, little is known about the mechanisms involved in ABS. This study addressed i
PMID 26055209

[Interest of dermal substitute (Matriderm(©)) to cover long fingers after congenital syndactyly: About 20 commissures].

Truffandier MV1, Perrot P2, Duteille F3.
Annales de chirurgie plastique et esthétique.Ann Chir Plast Esthet.2015 Aug;60(4):284-90. doi: 10.1016/j.anplas.2014.09.010.
INTRODUCTION: Surgical treatment of congenital syndactylies is based on the creation of a new commissure - with a commissural flap - and on the management of fingers lateral faces - with mirror zigzag incisions. Lateral skin defects are covered by full-thickness skin graft. Since their discover 30
PMID 25447213

The combined ALT-groin flap for the mutilated and degloved hand.

Zelken JA1, Chang NJ1, Wei FC1, Lin CH2.
Injury.Injury.2015 Aug;46(8):1591-6. doi: 10.1016/j.injury.2015.05.022. Epub 2015 May 20.
BACKGROUND: Degloving and mutilation of the hand is a rare but formidable challenge. When replantation is not possible, we rely on distant pedicled flaps. We present a technique using pedicled anterolateral thigh (ALT) and groin flaps to sandwich and resurface the degloved hand. The purpose of this
PMID 26093962

Japanese Journal

先天性皮膚性合指症に対する皮下茎皮弁による指間形成の経験

久保田夏枝,浜島昭人,村松英之 [他]
形成外科 54(10), 1163-1168, 2011-10
NAID 40019001350

Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1)

JELANI Musharraf,CHISHTI Muhammad Salman,AHMAD Wasim
Journal of human genetics 56(5), 352-357, 2011-05-01
NAID 10030659181

Related Pictures

Syndactyly 755.1 | eORIF Syndactyly, cutaneous. Causes, symptoms, treatment Syndactyly, cutaneous Birth: Syndactyly release incision planning potential pitfall Image Gallery syndactyly hand Syndactyly; Polysyndactyly Amniotic Constriction Band | Congenital Hand and Arm Differences

★リンクテーブル★

リンク元	「スミス・レムリ・オピッツ症候群」「合指症」
拡張検索	「polysyndactyly」

「スミス・レムリ・オピッツ症候群」

Syndactyly
	Newborn baby hand showing complete complex syndactyly of two fingers.
Classification and external resources
ICD-10	Q70
ICD-9	755.1
OMIM	185900 186100 186200 186300
DiseasesDB	29330
MedlinePlus	003289
eMedicine	orthoped/563
MeSH	D013576

　　[★]

英: Smith-Lemli-Opitz syndrome, SLOS
同: Smith-Lemli-Opitz症候群 SLO症候群 SLO syndrome、RSH症候群 RSH syndrome

概念

単一遺伝子の変異により奇形が多発する疾患

病因

ミクロソーム酵素である7-デヒドロコレステロール還元酵素(7 dehyrocholesterol-Δ7 reductase(NEL.588), sterol Δ7-reductase(NEL.2401), DHCR7)の欠損　→　コレステロール合成の最終段階に必要。
遺伝子座：7q32.1？, 11q12-q13(NEL.2401)？

疫学

出生4万人対1
罹患率：1/20,000-60,000 births among whites (NEL.589)
70%が男性

遺伝形式

常染色体劣性遺伝

病変形成＆病理

症候

成長遅滞、小頭症、眼瞼下垂、前向き鼻孔(anteverted nares)、broad alveolar ridges、第2-3趾のsyndactyly、重度の精神遅滞、imcomplete development of genitals, high forehead, plyloric stenosis
♂：genital ambiguity or complete sex reversal with famale external genital
♀：normal genitals.

診断

検査

治療

生後二，三週間の食事療法により疾患の経過を良くする

administration of vegetable oil supplemented by large amounts of cholesterol

予後

症例の1/4は2歳までに死亡

USMLE

Q book p.138 29

参考

e-medicine

http://emedicine.medscape.com/article/949125-overview

「合指症」

　　[★]

英: syndactyly
ラ: syndactylia

「polysyndactyly」

　　[★]

多合指症

関: syndactyly

[PMC1200697-1] Flatt A (1 January 2005). "Webbed fingers". Proceedings (Baylor University. Medical Center) 18 (1): 26–37. PMC 1200697. PMID 16200145.

[pmid10877983-2] Bosse K, Betz RC, Lee YA et al. (2000). "Localization of a Gene for Syndactyly Type 1 to Chromosome 2q34-q36". Am. J. Hum. Genet. 67 (2): 492–7. doi:10.1086/303028. PMC 1287194. PMID 10877983.

[pmc1051468-3] Sarfarazi, Akarsu et al. (1995). "Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker" (PDF). Hum. Mol. Genet. 4 (8): 1453–8. doi:10.1093/hmg/4.8.1453. PMID 7581388.

[pmid17476456-4] Sato D, Liang D, Wu L et al. (2007). "A syndactyly type IV locus maps to 7q36". Journal of Human Genetics 52 (6): 561–4. doi:10.1007/s10038-007-0150-5. PMID 17476456.

[5] Malik, Sajid (15 February 2012). "Syndactyly: phenotypes, genetics and current classification". European Journal of Human Genetics. doi:10.1038/ejhg.2012.14.

匿名

検索

案内

案内

syndactyly