WordNet

a camper equipped with living quarters (同)caravan
(Great Britain) a closed railroad car that carries baggage or freight
a truck with an enclosed cargo space
a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
(Norse mythology) goddess of old age who defeated Thor in a wrestling match

PrepTutorEJDIC

有蓋トラック,ほろつきトラック(家具・商品・家畜などの運搬用に使われる) / 《英》=boxcar
(行進中の軍隊・航行中の艦隊の)先頭 / (政治・社会・芸術運動などの)先頭
(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
verb / verso / 《話》very / velocity / volt[s] / volume / vide

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/07/08 08:53:31」(JST)

wiki en

Ellis–van Creveld Syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see 'Nomenclature' section below) is a rare genetic disorder of the skeletal dysplasia type.

Symptoms

Patient with Ellis–Van Creveld syndrome at the age of 5 years showing long narrow chest and shortness of the limbs

Anterior view of the mouth of EVC patient showing absence of upper incisors and conical lower incisors

It involves numerous anomalies including:

Post-axial polydactyly
Congenital heart defects (most commonly an atrial septal defect producing a common atrium, occurring in 60% of affected individuals)
Teeth present at birth (natal teeth)^[1]^[2]
Fingernail dysplasia^[2]
Short-limbed dwarfism, mesomelic pattern^[2]
Short ribs
Cleft palate
Malformation of the wrist bones (fusion of the hamate and capitate bones).

Genetics

Ellis–van Creveld syndrome often is the result of founder effects in isolated human populations, such as the Amish and some small island inhabitants. Although relatively rare, this disorder does occur with higher incidence within founder-effect populations due to lack of genetic variability. Observation of the inheritance pattern has illustrated that the disease is autosomal recessive, meaning that both parents have to carry the gene in order for an individual to be affected by the disorder.^[3]

Ellis–van Creveld syndrome is caused by a mutation in the EVC gene, as well as by a mutation in a nonhomologous gene, EVC2, located close to the EVC gene in a head-to-head configuration. The gene was identified by positional cloning.^[4] The EVC gene maps to the chromosome 4 short arm. The function of a healthy EVC gene is not well understood at this time.^[3]

Relation to other rare disorders: genetic ciliopathy

Until recently, the medical literature did not indicate a connection among many genetic disorders, both genetic syndromes and genetic diseases, that are now being found to be related. As a result of new genetic research, some of these are, in fact, highly related in their root cause despite the widely varying set of medical symptoms that are clinically visible in the disorders. Ellis–van Creveld syndrome is one such disease, part of an emerging class of diseases called ciliopathies. The underlying cause may be a dysfunctional molecular mechanism in the primary cilia structures of the cell, organelles which are present in many cellular types throughout the human body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases. Known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstrom syndrome, Meckel–Gruber syndrome and some forms of retinal degeneration.^[5]

History

The disorder was described by Richard W. B. Ellis (1902–1966) of Edinburgh and Simon van Creveld (1895–1971) of Amsterdam.^[6] Each had a patient with this syndrome, as they had discovered when they met in the same train compartment on the way to a pediatrics conference in England in the late 1930s. A third patient had been referred to by L. Emmett Holt, Jr. and Rustin McIntosh in a textbook of pediatrics (Holt and McIntosh, 1933) and was included in full in the paper by Ellis and van Creveld (1940).^[7]

McCusick et al. (1964) followed up with a study of its incidence in the Amish population. He observed the largest pedigree so far, in an inbred religious isolate, the Old Order Amish, in Lancaster County, Pennsylvania.^[8] Almost as many persons were known in this one kindred as had been reported in all the medical literature up to that time.

This genetic disease is a result of close inbreeding. All affected individuals can trace their ancestry to Samuel King and his wife.

Nomenclature

'Six-fingered dwarfism' ('digital integer deficiency') was an alternative designation used for this condition when it was being studied in the Amish^[8] and may have served a useful function in defining this then little known condition for the medical profession, as well as the lay public. The term, however, has been found offensive by some, apparently not because of 'dwarfism,' but because of the reference to the polydactyly, which is seen as a 'freakish' labeling. For this reason, 6-fingered dwarfism has been removed as an alternative name for this entry. This leaves Ellis–van Creveld syndrome with its felicitous abbreviation, EVC, as the only satisfactory designation. Chondroectodermal dysplasia and mesoectodermal dysplasia do not well define the entity and are not satisfactory for general usage, either medical or otherwise.

References

^ "Natal teeth". MedlinePlus : U.S. National Library of Medicine. Retrieved 7 April 2013.
^ ^a ^b ^c "Ellis-van Creveld syndrome". MedlinePlus : U.S. National Library of Medicine. Retrieved 7 April 2013.
^ ^a ^b "Ellis–van Creveld syndrome". Genes and Diseases. NCBI. 1998. Retrieved November 8, 2010.
^ Ruiz-Perez VL, Ide SE, Strom TM et al. (2000). "Mutations in a new gene in Ellis–van Creveld syndrome and Weyers acrodental dysostosis". Nat. Genet. 24 (3): 283–6. doi:10.1038/73508. PMID 10700184.
^ Badano, Jose L.; Norimasa Mitsuma; Phil L. Beales; Nicholas Katsanis (September 2006). "The Ciliopathies : An Emerging Class of Human Genetic Disorders". Annual Review of Genomics and Human Genetics 7: 125–148. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803. Retrieved 2008-06-15.
^ synd/1114 at Who Named It?
^ Ellis, R. W. B.; van Creveld, S.: A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: report of three cases. Arch. Dis. Child. 15: 65–84, 1940.
^ ^a ^b McKusick, V. A.; Egeland, J. A.; Eldridge, R.; Krusen, D. E. (1964). "Dwarfism in the Amish. I. The Ellis–van Creveld syndrome". Bulletin of the Johns Hopkins Hospital 115: 306–36. PMID 14217223.

External links

Ellis–van Creveld

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias
2. 歯の発達障害 developmental defects of the teeth
3. 新生児の評価 assessment of the newborn infant
4. 軟骨毛髪形成不全症 cartilage hair hypoplasia

English Journal

[Atrioventricular canal defect, single atrium and tricuspid atresia as part of a case of Ellis-Van Creveld syndrome].

Gonzales Portillo SN, Conde Sumire R, Gamio Vega Centeno F, Hernández-Córdova G, Romaní Romaní F.SourceServicio de Pediatría B, Hospital Regional del Cusco, Cusco, Perú
Archivos argentinos de pediatría.Arch Argent Pediatr.2013 Jun;111(3):e58-61. doi: 10.1590/S0325-00752013000300012.
Ellis-Van Creveld Syndrome or chondrectodermal dysplasia is produced by an autosomal recessive inheritance secondary to mutation in the short arm of chromosome 4. The syndrome affects multiple organs. It is described as a clinical tetrad that involves chondrodysplasia, ectodermal dysplasia, polydact
PMID 23732355

Evc regulates a symmetrical response to Shh signaling in molar development.

Nakatomi M, Hovorakova M, Gritli-Linde A, Blair HJ, MacArthur K, Peterka M, Lesot H, Peterkova R, Ruiz-Perez VL, Goodship JA, Peters H.SourceInstitute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Journal of dental research.J Dent Res.2013 Mar;92(3):222-8. doi: 10.1177/0022034512471826. Epub 2013 Jan 11.
Tooth morphogenesis involves patterning through the activity of epithelial signaling centers that, among other molecules, secrete Sonic hedgehog (Shh). While it is known that Shh responding cells need intact primary cilia for signal transduction, the roles of individual cilia components for tooth mo
PMID 23315474

Japanese Journal

歯・顎に異常を伴う疾病と症候群 (特集小児科医が知っておきたい歯科・口腔のケアと対応) -- (からだと口腔疾患)

池田正一
小児科診療 74(7), 1092-1098, 2011-07
NAID 40018882696

Prenatal diagnosis of short-rib polydactyly syndrome type 3 (Verma-Naumoff type) by three-dimensional helical computed tomography

Yamada Takahiro,Nishimura Gen,Nishida Keiichiro,Sawai Hideaki,Omatsu Tokuhiko,Kimura Taichi,Nishihara Hiroshi,Shono Rina,Shimada Shigeki,Morikawa Mamoru,Mizushima Masato,Yamada Takashi,Cho Kazutoshi,Tanaka Shinya,Shirato Hiroki,Minakami Hisanori
Journal of Obstetrics and Gynaecology Research 37(2), 151-155, 2011-02
… We present a case of short-rib polydactyly syndrome (SRP) type 3 in which accurate prenatal diagnosis was feasible using both ultrasonography and 3D-CT. … However, the phenotypes overlap with those of nonlethal skeletal dysplasias, i.e., Ellis-van Creveld syndrome and Jeune syndrome. …
NAID 120005311807

A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family

Umm-e-Kalsoom,WASIF Naveed,TARIQ Muhammad,AHMAD Wasim
Pediatrics international : official journal of the Japan Pediatric Society 52(2), 240-246, 2010-04-01
NAID 10028181905

Related Pictures

★リンクテーブル★

リンク元	「エリス・ファンクレフェルト症候群」「エリス・ファン・クレーフェルト症候群」「chondroectodermal dysplasia」
関連記事	「syndrome」

「エリス・ファンクレフェルト症候群」

Ellis–van Creveld syndrome
	Polydactyly in Ellis–van Creveld syndrome
Classification and external resources
ICD-10	Q77.6
ICD-9-CM	756.55
OMIM	225500
DiseasesDB	29309
MedlinePlus	001667
eMedicine	ped/660
MeSH	D004613