About: Roberts syndrome

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Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs. It is caused by a mutation in the ESCO2 gene. It is one of the rarest autosomal recessive disorders, affecting approximately 150 known individuals. The mutation causes cell division to occur slowly or unevenly, and the cells with abnormal genetic content die.

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rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	متلازمة روبرتس (ar) Roberts-Syndrom (de) Síndrome de Roberts (es) Syndrome de Roberts (fr) Zespół Robertsa (pl) Roberts syndrome (en)
rdfs:comment	متلازمة روبرتس هي متلازمة نادرة جداً ناتجة عن خلل جيني يؤدي إلى عيوب جسمانية متعددة. (ar) El síndrome de Roberts (RBS) es una enfermedad genética autosómica recesiva que se caracteriza por un retraso en el crecimiento prenatal (de leve a grave) y malformaciones en las extremidades. Las extremidades superiores se ven más afectadas que las inferiores. También se producen anormalidades craneofaciales. En la mayoría de afectos se produce también un retraso intelectual. En cuanto a la mortalidad, es muy alta durante la gestación y en los recién nacidos. Pocos enfermos sobreviven hasta la edad adulta. En cuanto a la prevalencia, es muy rara, se han reportado 150 individuos de distintas razas y etnias. La frecuencia de los individuos portadores es desconocida. (es) Das Roberts-Syndrom, auch Pseudothalidomid-Syndrom, Appelt-Gerken-Lenz-Syndrom oder Roberts-SC-Phokomelie genannt, ist eine sehr seltene autosomal-rezessiv vererbte schwerwiegende Fehlbildung. (de) Zespół Robertsa (zespół pseudotalidomidowy, zespół Appelta-Gerkena-Lenza, ang. Roberts' syndrome, pseudothalidomide syndrome, Appelt-Gerken-Lenz syndrome) – rzadki, uwarunkowany genetycznie zespół wad wrodzonych, charakteryzujący się symetrycznym skróceniem wszystkich kończyn i niezwykłą nieprawidłowością cytogenetyczną, jaką jest przedwczesne oddzielenie centromeru, uniemożliwiające proces parowania chromatyd. (pl) Le syndrome de Roberts ou syndrome pseudothalidomide se caractérise par des malformations sévères des membres pouvant aller jusqu'à une phocomélie et une croissance insuffisante de nouveau-né. Les membres supérieurs sont plus fréquemment atteints que les membres inférieurs. Les autres anomalies des membres comprennent une oligodactylie avec une hypoplasie ou une aplasie des pouces, une syndactylie, une clinodactylie et des contractures des coudes et des genoux. (fr) Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs. It is caused by a mutation in the ESCO2 gene. It is one of the rarest autosomal recessive disorders, affecting approximately 150 known individuals. The mutation causes cell division to occur slowly or unevenly, and the cells with abnormal genetic content die. (en)
foaf:name	Roberts syndrome (en)
name	Roberts syndrome (en)
foaf:depiction
dcterms:subject	Cytogenetics Autosomal recessive disorders Rare diseases Syndromes
Wikipage page ID	26855929 (xsd:integer)
Wikipage revision ID	1049037648 (xsd:integer)
Link from a Wikipage to another Wikipage	Encephalocele Moyamoya disease Cytogenetics Cytogenetics Cleft lip Cleft palate Clinodactyly Autosomal recessive disorders Autosomal Autosomal recessive Cell division Centromere Rare diseases Thalidomide Hypertelorism Hypoplasia ESCO2 Syndromes Syndactyly Palpebral fissures Intellectual disability Micrognathia Recessive Chromosome 8 (human) Exophthalmos Oligodactyly Universidad Nacional de Colombia Heterozygotes dbr:Malar_hypoplasia dbr:Tetraphocomelia
Link from a Wikipage to an external page	http://www.hopkinsmedicine.org/Press_releases/2005/04_11_05.html https://web.archive.org/web/19981203154101/http:/www.about.com https://web.archive.org/web/19991002044236/http:/www.thefetus.net/ https://web.archive.org/web/20040113200659/http:/www.rarediseases.org/search/rdbdetail_abstract.html%3Fdisname=Roberts%20Syndrome https://web.archive.org/web/20041117121430/http:/www.ninds.nih.gov/disorders/encephaloceles/encephaloceles.htm https://web.archive.org/web/20070503063725/http:/children.webmd.com/roberts-syndrome https://web.archive.org/web/20110716104717/http:/www.sonoworld.com/Fetus/page.php%3Fid=370 http://ghr.nlm.nih.gov/condition=robertssyndrome http://rarediseases.about.com/od/rarediseasesr/a/042205.htm https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi%3Fbook=gene&part=rbs
sameAs	Roberts syndrome Roberts syndrome Roberts syndrome Roberts syndrome Roberts syndrome Roberts syndrome Roberts syndrome Roberts syndrome

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