About: Lethal congenital contracture syndrome

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Lethal congenital contracture syndrome 1 (LCCS1), also called Multiple contracture syndrome, Finnish type, is an autosomal recessive genetic disorder characterized by total immobility of a fetus, detectable at around the 13th week of pregnancy. LCCS1 invariably leads to prenatal death before the 32nd gestational week. LCCS1 is one of 40 Finnish heritage diseases. It was first described in 1985 and since then, approximately 70 cases have been diagnosed.

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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:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes umbel-rc:AilmentCondition
rdfs:label	Síndrome de contractura congénita letal (es) Lethal congenital contracture syndrome (en)
rdfs:comment	El síndrome de contractura congénita letal (LCCS) es una enfermedad hereditaria muy poco frecuente que se caracteriza por total inmovilidad del feto que se detecta por ecografía a partir de las 12 semanas de gestación. Existen contracturas múltiples en las articulaciones de miembros superiores e inferiores, hydrops y muerte del feto antes de alcanzar la semana 32 de gestación. Los casos se presentan principalmente en la población de Finlandia, donde tiene un incidencia de un caso por cada 25 000 nacimientos, es muy rara en el resto del mundo, por lo que se incluye dentro de las enfermedades de herencia finlandesa. (es) Lethal congenital contracture syndrome 1 (LCCS1), also called Multiple contracture syndrome, Finnish type, is an autosomal recessive genetic disorder characterized by total immobility of a fetus, detectable at around the 13th week of pregnancy. LCCS1 invariably leads to prenatal death before the 32nd gestational week. LCCS1 is one of 40 Finnish heritage diseases. It was first described in 1985 and since then, approximately 70 cases have been diagnosed. (en)
foaf:name	Lethal congenital contracture syndrome (en)
name	Lethal congenital contracture syndrome (en)
foaf:depiction
dct:subject	Autosomal recessive disorders Rare diseases Syndromes
Wikipage page ID	25441455 (xsd:integer)
Wikipage revision ID	1048700070 (xsd:integer)
Link from a Wikipage to another Wikipage	Pregnancy GLE1L Genetic disorder Genetic carrier Autosomal recessive disorders Lethal arthrogryposis with anterior horn cell disease Chromosome Chromosome 9 Rare diseases Syndromes Heredity Dominance (genetics) Autosome Fetus Finnish heritage disease
sameAs	Lethal congenital contracture syndrome Lethal congenital contracture syndrome Lethal congenital contracture syndrome Lethal congenital contracture syndrome Lethal congenital contracture syndrome Lethal congenital contracture syndrome Lethal congenital contracture syndrome
dbp:wikiPageUsesTemplate	dbt:Cn dbt:Empty_section dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist
thumbnail	wiki-commons:Special:FilePath/Autorecessive.svg?width=300
OMIM	253310 (xsd:integer)
Orphanet	294965 (xsd:integer)
caption	Lethal congenital contracture syndrome has an autosomal recessive pattern of inheritance. (en)
has abstract	El síndrome de contractura congénita letal (LCCS) es una enfermedad hereditaria muy poco frecuente que se caracteriza por total inmovilidad del feto que se detecta por ecografía a partir de las 12 semanas de gestación. Existen contracturas múltiples en las articulaciones de miembros superiores e inferiores, hydrops y muerte del feto antes de alcanzar la semana 32 de gestación. Los casos se presentan principalmente en la población de Finlandia, donde tiene un incidencia de un caso por cada 25 000 nacimientos, es muy rara en el resto del mundo, por lo que se incluye dentro de las enfermedades de herencia finlandesa. (es) Lethal congenital contracture syndrome 1 (LCCS1), also called Multiple contracture syndrome, Finnish type, is an autosomal recessive genetic disorder characterized by total immobility of a fetus, detectable at around the 13th week of pregnancy. LCCS1 invariably leads to prenatal death before the 32nd gestational week. LCCS1 is one of 40 Finnish heritage diseases. It was first described in 1985 and since then, approximately 70 cases have been diagnosed. (en)
gold:hypernym	Disorder
prov:wasDerivedFrom	wikipedia-en:Lethal_congenital_contracture_syndrome?oldid=1048700070&ns=0
page length (characters) of wiki page	6355 (xsd:nonNegativeInteger)
OMIM id	253310 (xsd:integer)
ORPHA	294965
foaf:isPrimaryTopicOf	wikipedia-en:Lethal_congenital_contracture_syndrome
is Link from a Wikipage to another Wikipage of	List of diseases (L) CASPR GLE1L Lethal arthrogryposis with anterior horn cell disease Helicase Chromosome 9 List of syndromes LCCS Lethal congenital contracture syndrome 1
is Wikipage redirect of	Lethal congenital contracture syndrome 1
is Wikipage disambiguates of	LCCS
is foaf:primaryTopic of	wikipedia-en:Lethal_congenital_contracture_syndrome

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