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- Roberts_syndrome abstract "Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare 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.Roberts syndrome is also known by many other names, including: Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome, SC Syndrome (once thought to be an entirely separate disease), Pseudothalidomide Syndrome, Roberts-SC Phocomelia Syndrome, SC Phocomelia Syndrome, Appelt-Gerken-Lenz Syndrome, RBS, SC Pseudothalidomide Syndrome, and Tetraphocomelia-Cleft Palate Syndrome. It is a genetic disorder caused by the mutation of the ESCO2 gene on 8th chromosome. Named after John B. Roberts, who first described the syndrome in 1919, it is one of the rarest autosomal recessive disorders, affecting approximately 150 known individuals.The Syndrome is both autosomal, in that there are equal numbers of copies of the gene in both males and females, and recessive, meaning the child must inherit the defective gene from both parents. The mutation causes cell division to occur slowly or unevenly, and the cells with abnormal genetic content die. Roberts syndrome can affect both males and females. Although the disorder is rare, the affected group is diverse. The mortality rate is high in severely affected individuals.".
- Roberts_syndrome icd10 "Q73.8".
- Roberts_syndrome omim "268300".
- Roberts_syndrome thumbnail Virchow_fetus_1898.JPG?width=300.
- Roberts_syndrome wikiPageExternalLink roberts-syndrome.
- Roberts_syndrome wikiPageExternalLink condition=robertssyndrome.
- Roberts_syndrome wikiPageExternalLink 042205.htm.
- Roberts_syndrome wikiPageExternalLink www.TheFetus.net.
- Roberts_syndrome wikiPageExternalLink www.about.com.
- Roberts_syndrome wikiPageExternalLink 04_11_05.html.
- Roberts_syndrome wikiPageExternalLink br.fcgi?book=gene&part=rbs.
- Roberts_syndrome wikiPageExternalLink encephaloceles.htm.
- Roberts_syndrome wikiPageExternalLink rdbdetail_abstract.html?disname=Roberts%20Syndrome.
- Roberts_syndrome wikiPageExternalLink page.php?id=370.
- Roberts_syndrome wikiPageID "26855929".
- Roberts_syndrome wikiPageRevisionID "581944011".
- Roberts_syndrome genereviewsname "Roberts syndrome".
- Roberts_syndrome genereviewsnbk "NBK1153".
- Roberts_syndrome hasPhotoCollection Roberts_syndrome.
- Roberts_syndrome icd "Q73.8".
- Roberts_syndrome name "Roberts syndrome".
- Roberts_syndrome omim "268300".
- Roberts_syndrome subject Category:Autosomal_recessive_disorders.
- Roberts_syndrome subject Category:Cytogenetics.
- Roberts_syndrome subject Category:Rare_diseases.
- Roberts_syndrome subject Category:Syndromes.
- Roberts_syndrome type Abstraction100002137.
- Roberts_syndrome type Attribute100024264.
- Roberts_syndrome type AutosomalRecessiveDisorders.
- Roberts_syndrome type Cognition100023271.
- Roberts_syndrome type Complex105870365.
- Roberts_syndrome type Concept105835747.
- Roberts_syndrome type Condition113920835.
- Roberts_syndrome type Content105809192.
- Roberts_syndrome type Disease114070360.
- Roberts_syndrome type Disorder114052403.
- Roberts_syndrome type Idea105833840.
- Roberts_syndrome type IllHealth114052046.
- Roberts_syndrome type Illness114061805.
- Roberts_syndrome type PathologicalState114051917.
- Roberts_syndrome type PhysicalCondition114034177.
- Roberts_syndrome type PsychologicalFeature100023100.
- Roberts_syndrome type State100024720.
- Roberts_syndrome type Syndrome105870790.
- Roberts_syndrome type Syndromes.
- Roberts_syndrome type Whole105869584.
- Roberts_syndrome type Disease.
- Roberts_syndrome type AilmentCondition.
- Roberts_syndrome type Situation.
- Roberts_syndrome comment "Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare 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.Roberts syndrome is also known by many other names, including: Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome, SC Syndrome (once thought to be an entirely separate disease), Pseudothalidomide Syndrome, Roberts-SC Phocomelia Syndrome, SC Phocomelia Syndrome, Appelt-Gerken-Lenz Syndrome, RBS, SC Pseudothalidomide Syndrome, and Tetraphocomelia-Cleft Palate Syndrome. ".
- Roberts_syndrome label "Roberts syndrome".
- Roberts_syndrome label "Roberts-Syndrom".
- Roberts_syndrome label "Syndrome de Roberts".
- Roberts_syndrome label "Síndrome de Roberts".
- Roberts_syndrome label "Zespół Robertsa".
- Roberts_syndrome sameAs Roberts-Syndrom.
- Roberts_syndrome sameAs Síndrome_de_Roberts.
- Roberts_syndrome sameAs Syndrome_de_Roberts.
- Roberts_syndrome sameAs Zespół_Robertsa.
- Roberts_syndrome sameAs m.0bm8jxd.
- Roberts_syndrome sameAs Q619428.
- Roberts_syndrome sameAs Q619428.
- Roberts_syndrome sameAs 1008.
- Roberts_syndrome sameAs Roberts_syndrome.
- Roberts_syndrome wasDerivedFrom Roberts_syndrome?oldid=581944011.
- Roberts_syndrome depiction Virchow_fetus_1898.JPG.
- Roberts_syndrome isPrimaryTopicOf Roberts_syndrome.
- Roberts_syndrome name "Roberts syndrome".
