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- Young–Madders_syndrome abstract "Young–Madders syndrome, alternatively known as Pseudotrisomy 13 syndrome or holoprosencephaly–polydactyly syndrome, is a genetic disorder resulting from defective and duplicated chromosomes which result in holoprosencephaly, polydactyly, facial malformations and mental retardation, with a significant variance in the severity of symptoms being seen across known cases. Many cases often suffer with several other genetic disorders, and some have presented with hypoplasia, cleft lip, cardiac lesions and other heart defects. In one case in 1991 and another in 2000 the condition was found in siblings who were the product of incest. Many cases are diagnosed prenatally and often in siblings. Cases are almost fatal in the prenatal stage with babies being stillborn.Though it is now thought that earlier cases were misdiagnosed as other genetic disorders with similar pathology—such as Smith–Lemli–Opitz syndrome—the earliest publicised recognition of the condition as a new, hitherto unclassified, genetic disorder was made by two British doctors in Leicester in 1987. Though they identified the condition, later named for them, they did not identify the genetic anomalies responsible but suspected a link with trisomy 13 due to the similar symptoms. With only one or two occurrences documented towards the end of the decade, a group of eight doctors published a five-patient case-study in 1991 which identified the likely chromosomal factors that caused the condition, similar to but distinct from trisomy 13, and gave it the name 'holoprosencephaly–polydactyly syndrome' based on its two most prolific presenting conditions. Later research showed that the condition could manifest in patients with normal karyotypes, without duplication of the chromosomes, and the most recent genetic research implicates problems with the gene code FBXW11 as a likely cause.".
- Young–Madders_syndrome omim "264480".
- Young–Madders_syndrome thumbnail Alobar_holoprosencephaly.jpg?width=300.
- Young–Madders_syndrome wikiPageID "41742229".
- Young–Madders_syndrome wikiPageLength "12307".
- Young–Madders_syndrome wikiPageOutDegree "48".
- Young–Madders_syndrome wikiPageRevisionID "631322006".
- Young–Madders_syndrome wikiPageWikiLink Anosmia.
- Young–Madders_syndrome wikiPageWikiLink Base_pair.
- Young–Madders_syndrome wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Young–Madders_syndrome wikiPageWikiLink Category:Genetic_disorders.
- Young–Madders_syndrome wikiPageWikiLink Cell_(biology).
- Young–Madders_syndrome wikiPageWikiLink Chromosome.
- Young–Madders_syndrome wikiPageWikiLink Chromosome_13_(human).
- Young–Madders_syndrome wikiPageWikiLink Cleft_lip_and_palate.
- Young–Madders_syndrome wikiPageWikiLink Cyclopia.
- Young–Madders_syndrome wikiPageWikiLink DNA.
- Young–Madders_syndrome wikiPageWikiLink FBXW11.
- Young–Madders_syndrome wikiPageWikiLink Fetus.
- Young–Madders_syndrome wikiPageWikiLink Genetic_disorder.
- Young–Madders_syndrome wikiPageWikiLink Gross_pathology.
- Young–Madders_syndrome wikiPageWikiLink Grote_syndrome.
- Young–Madders_syndrome wikiPageWikiLink Holoprosencephaly.
- Young–Madders_syndrome wikiPageWikiLink Human_eye.
- Young–Madders_syndrome wikiPageWikiLink Human_nose.
- Young–Madders_syndrome wikiPageWikiLink Hypoplasia.
- Young–Madders_syndrome wikiPageWikiLink Incest.
- Young–Madders_syndrome wikiPageWikiLink Incisor.
- Young–Madders_syndrome wikiPageWikiLink Intellectual_disability.
- Young–Madders_syndrome wikiPageWikiLink Journal_of_Medical_Genetics.
- Young–Madders_syndrome wikiPageWikiLink Karyotype.
- Young–Madders_syndrome wikiPageWikiLink Leicester.
- Young–Madders_syndrome wikiPageWikiLink Leicester_Royal_Infirmary.
- Young–Madders_syndrome wikiPageWikiLink Lip.
- Young–Madders_syndrome wikiPageWikiLink Meckel_syndrome.
- Young–Madders_syndrome wikiPageWikiLink Nonsyndromic_deafness.
- Young–Madders_syndrome wikiPageWikiLink Patau_syndrome.
- Young–Madders_syndrome wikiPageWikiLink Pathology.
- Young–Madders_syndrome wikiPageWikiLink Polydactyly.
- Young–Madders_syndrome wikiPageWikiLink Prenatal_development.
- Young–Madders_syndrome wikiPageWikiLink Skull.
- Young–Madders_syndrome wikiPageWikiLink Smith–Lemli–Opitz_syndrome.
- Young–Madders_syndrome wikiPageWikiLink Stillbirth.
- Young–Madders_syndrome wikiPageWikiLink Tricuspid_valve.
- Young–Madders_syndrome wikiPageWikiLink United_Kingdom.
- Young–Madders_syndrome wikiPageWikiLink Waardenburg_syndrome.
- Young–Madders_syndrome wikiPageWikiLink Wilsons_disease.
- Young–Madders_syndrome wikiPageWikiLink File:Preaxial_polydactyly_right_hand.jpg.
- Young–Madders_syndrome wikiPageWikiLinkText "Young–Madders syndrome".
- Young–Madders_syndrome caption "Gross pathology specimen from a case of alobar holoprosencephaly, a clinical manifestation of Young–Madders syndrome first described as a new condition by doctors Young and Madders in 1987.".
- Young–Madders_syndrome name "Young–Madders syndrome".
- Young–Madders_syndrome omim "264480".
- Young–Madders_syndrome wikiPageUsesTemplate Template:Cite_journal.
- Young–Madders_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Young–Madders_syndrome wikiPageUsesTemplate Template:OMIM.
- Young–Madders_syndrome wikiPageUsesTemplate Template:Reflist.
- Young–Madders_syndrome subject Category:Autosomal_recessive_disorders.
- Young–Madders_syndrome subject Category:Genetic_disorders.
- Young–Madders_syndrome hypernym Disorder.
- Young–Madders_syndrome type Disease.
- Young–Madders_syndrome type Thing.
- Young–Madders_syndrome type Q12136.
- Young–Madders_syndrome comment "Young–Madders syndrome, alternatively known as Pseudotrisomy 13 syndrome or holoprosencephaly–polydactyly syndrome, is a genetic disorder resulting from defective and duplicated chromosomes which result in holoprosencephaly, polydactyly, facial malformations and mental retardation, with a significant variance in the severity of symptoms being seen across known cases.".
- Young–Madders_syndrome label "Young–Madders syndrome".
- Young–Madders_syndrome sameAs Q17155571.
- Young–Madders_syndrome sameAs m.0_gzwp1.
- Young–Madders_syndrome sameAs Q17155571.
- Young–Madders_syndrome wasDerivedFrom Young–Madders_syndrome?oldid=631322006.
- Young–Madders_syndrome depiction Alobar_holoprosencephaly.jpg.
- Young–Madders_syndrome isPrimaryTopicOf Young–Madders_syndrome.
- Young–Madders_syndrome name "Young–Madders syndrome".