About: Ellis–Van Creveld syndrome

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Ellis–Van Creveld syndrome (also called mesoectodermal dysplasia but see '' section below) is a rare genetic disorder of the skeletal dysplasia type.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	متلازمة إيليس-فان كريفيلد (ar) Ellis–Van Creveld syndrome (en) Ellis-van-Creveld-Syndrom (de) Síndrome de Ellis-van Creveld (es) Syndrome d'Ellis-Van Creveld (fr) Sindrome di Ellis-van Creveld (it) Zespół Ellisa-van Crevelda (pl) Syndroom van Ellis-Van Creveld (nl) Síndrome de Ellis-Van Creveld (pt) Синдром Елліса — ван Кревельда (uk) 埃利偉氏症候群 (zh)
rdfs:comment	متلازمة اليس فان كريفيلد (بالإنجليزية: Ellis-van creveld syndrome)‏ وهي عبارة عن خلل جيني نادر يُصيب الجهاز الهيكلي في الإنسان. (ar) Das Ellis-van-Creveld-Syndrom (EVC), auch als chondroektodermale Dysplasie bezeichnet, ist eine sehr seltene autosomal-rezessiv vererbte Krankheit. Es gehört zur Gruppe der Kurzripp-Polydaktylie-Syndrome (SRPS für Short Rib-Polydactyly Syndrome). (de) El síndrome de Ellis van Creveld es una enfermedad hereditaria de tipo AR (autosómica recesiva) causada por defectos en uno de los dos genes implicados en este síndrome (EVC y EVC2), los cuales se hallan cerca el uno del otro. (es) Ellis–Van Creveld syndrome (also called mesoectodermal dysplasia but see '' section below) is a rare genetic disorder of the skeletal dysplasia type. (en) Le syndrome d'Ellis Van Creveld (EVC) est un syndrome qui associe cliniquement un nanisme dysharmonieux atteignant surtout les jambes et les avant-bras, la présence de plus de cinq doigts, des anomalies des ongles et des dents ainsi qu'une malformation cardiaque souvent de type canal atrio-ventriculaire ou oreillette unique. Les anciens termes dysplasie chondro-ectodermique ou dysplasie mésoectodermique ne reflètent pas la totalité des organes atteints par la mutation du gène EVC. Le roi Richard III d'Angleterre était très probablement atteint par cette pathologie. (fr) Het syndroom van Ellis-Van Creveld is een zeldzame genetische afwijking aan het skelet. (nl) La sindrome di Ellis-van Creveld o displasia condro-ectodermica è un insieme di sintomi e segni caratterizzanti una malformazione congenita dell'individuo. (it) Zespół Ellisa-van Crevelda (dysplazja chondroektodermalna, ang. Ellis-van Creveld syndrome, EVC, chondroectodermal dysplasia, mesoectodermal dysplasia) – rzadki, genetycznie uwarunkowany zespół wad wrodzonych o charakterze dysplazji ektodermalnej, dziedziczony w sposób autosomalnie recesywny. Chorobę jako pierwsi opisali Richard White Bernhard Ellis i Simon van Creveld w 1940 roku. (pl) A síndrome de Ellis-van Creveld (também chamada displasia condroectodérmica ou displasia mesoectodérmica) é um doença genética rara. O portador possui anomalias múltiplas e nanismo.É herdada como um trato autossômico recessivo cuja gravidade varia de pessoa para pessoa. (pt) 埃利偉氏综合征（Ellis-van Creveld Syndrome、EVC）又稱為軟骨外胚層發育不良（chondroectodermal dysplasia），是一種罕見遺傳疾病，也是骨骼發育不良的類型之一。 (zh) Синдро́м Е́лліса — ван Кре́вельда (англ. Ellis–van Creveld syndrome; інші назви — хондроектодерма́льна дисплазі́я, мезоектодерма́льна дисплазі́я) — генетичне захворювання за типом скелетної дисплазії. Синдром є рідкісним, трапляється в одного новонародженого з 60—250 тисяч. Причиною є руйнівні мутації у генах EVC і EVC2. (uk)
foaf:name	Ellis–Van Creveld syndrome (en)
name	Ellis–Van Creveld syndrome (en)
foaf:depiction
dcterms:subject	Rare genetic syndromes Syndromes affecting teeth Syndromes affecting the heart Autosomal recessive disorders Genodermatoses Syndromes with dysmelia Syndromes affecting stature
Wikipage page ID	1445505 (xsd:integer)
Wikipage revision ID	1099949706 (xsd:integer)
Link from a Wikipage to another Wikipage	Primary ciliary dyskinesia Mutation Nephronophthisis Human Dysplasia Inbreeding Rare genetic syndromes Syndromes affecting teeth Syndromes affecting the heart Genetic disorder Genetic variability Genotype Cilia Cleft palate Emergence Gene Autosomal recessive disorders Cloning Pediatrics Pedigree chart Polycystic liver disease Population Syndrome Meckel–Gruber syndrome Autosomal recessive Cell (biology) Alström syndrome Amish Amsterdam Genodermatoses Syndromes with dysmelia Dwarfism Edinburgh Fingernail Bardet–Biedl syndrome Chromosome 4 Ciliopathy Disease Founder effect Disorder (medicine) Rib Richard Ellis (paediatrician) Island EVC2 EVC (gene) Atrial septal defect Syndromes affecting stature Lancaster County, Pennsylvania Phenotype Polycystic kidney disease Mesomelic Organelle Neonatal teeth Congenital heart defects Rustin McIntosh Retinopathy Polydactyly Hamate L. Emmett Holt, Jr. Wrist bone Pleiotropic

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